Many patients are not aware that they even qualify to use medical marijuana.  In California, there are over 150 different indications to recommend marijuana but the most common reasons people get recommendations for are:

1. Chronic Pain: for things like arthritis, headaches, back pain, dental pain etc.

2. Sleep disorders: primary insomnia to anxiety related sleep disorders.

3. Nausea, Vomiting or Lack of appetite for any reason.

4. Chronic anxiety in patients that do not want to take xanax or valium.

5. Har reduction for people who are addicted to opioids.

If you are wondering if you would qualify to use medical marijuana feel free to pre-qualify for free on our homepage or call our professional staff at 877-721-0047

What are the ramifications of drinking 62 grams of sugar in the morning (or ever for that matter?)   The body was not designed to handle that much sugar at any one time.    Because it is in the form of sucrose it gets rapidly absorbed which causes a spike in the amount of insulin in the blood.    Insulin is a fat storing hormone produced by the pancreas.  One of its main goals is to make sure that the brain, kidneys, heart and other vital organs have enough sugar (glucose) to maintain normal function.    If there is any sugar left over insulin tells the body to store it as fat.    That is why eating sugary foods and drinks (even if they are fat free) makes you fat.   It is the conversion of sugars to fat which takes place in the liver that makes these drinks so harmful to your health.

High insulin levels lead to diabetes, cancer, high blood pressure, depression, decreased libido and inflammation.   Across the board it is THE WORST thing that patients do to their bodies on a daily basis.

I always find it amazing when I am in starbucks and I here the staff call out “Steve. Non-Fat Venti Vanilla Frappuccino”   It is the non-fat part that makes no sense at all.    The amount of sugar that is in that drink is the equivalent of eating 32 vanilla wafer cookies!   Thirty-two!!!

One in three people born in the US in the year 2000 will go on to have diabetes.    Diabetes will be the leading cause of death by the year 2020.   It is already the leading cause of blindness, kidney disease and cardiovascular disease.

Most patients, if they just drank water and cut out the empty calories in sugary drinks would lose weight.  Their blood sugars, cholesterol and blood pressure would also improve.

TIP OF THE DAY: look at how many grams of sugar you are drinking every day.    Most people are getting their entire daily carbohydrate requirement in two drinks before they ever take one bite of food.

In this patient he was actually on a 27 hour sleep cycle.    This means that there are times where 1 in the afternoon feels like 1 in the morning.   Obviously it was very disruptive to his daily life and makes it very difficult for him to function at work with massive amounts of caffeine during the day and heavily sedating drugs at night.

Unfortunately caffeine has a ton of bad consequense and this patient was becoming addicted to sleeping pills.   Specifically, he was using more and more temazepam which is a benzodiazepine medication (like valium).   He came to me in search of a potential alternative.

His sleep specialist told him that he may benefit from a trial of medical marijuana.  There is more research coming out that says that indica strains that are higher in cannabinol (CBD) and lower in tertahydrocannabinol (THC) are more sedating than traditional sativa based marijuana strains.   They tend to be less psychoactive and more sedating.  Therefore patients do not get the intense head high but instead a “body relaxation” effect.

Although I have yet to see any major studies that have compared different strains of medical marijuana I do not that patients report different effects when they use indica versus sativa strains.    Much more research has to be done in order to get an answer that will undergo the rigors of scientific scrutiny but until the federal governement re-schedules marijuana it will most likely NOT happen in the United States.

Stay tuned and continue to petition your politicians to put pressure on the government to allow the safe and funded research of medical marijuana.

Medical Marijuana benefits HIV+ and Aids patients in many ways:
1. It reduces the pain associated with peripheral neuropathy that often accompanies the disease.
2. It stimulates the appetite and combats Aids wasting syndrome.
3. it reduces nausea and other gastrointestinal side effects associated with the medications used to treat HIV.
4. It helps HIV patients sleep.
5. It reduces HIV/Aids patients need for anti-anxiety medications. Many HIV+ patients have significant anxiety associated with their disease and are prescribed benzodiazepine drugs like xanax (alprazolam) and valium (diazepam).

Treating HIV+ patients with medical marijuana has been extremely rewarding as my patients get excellent results and are very grateful.

I encourage all HIV+ patients to consider using medical marijuana to treat the above symptoms and have an open conversation with their doctor.

If you have questions or would like to come in for an appointment feel free to give my office a call at 877-721-0047.

Be blessed,

I asked her about her faith and she said she was “spiritual” but I encouraged her to pray for healing as we have yet to fully comprehend the power of the minds ability to heal the body.

With that in mind I ask that if you are reading this and DO pray, maybe keep her in mind and ask that God throws her a miracle cure if that is his will.   it can be as simple as “God I ask that your will be done in pam’s life” and to “please give her the peace to know that she can handle whatever life and her doctors throw at her from now until the day she is healed”.

Thanks and God Bless!

Here is a small sample of some of the patients I evaluated:

1. Dan was a 71 year old man who suffers from post-herpetic neuralgia and has been in severe pain ever since.  He had been taking gabapentin, hydrocodone to control the pain and ambien to sleep at night.   He was not getting adequate relief and wanted to give medical marijuana a try.

2. Joann was a 84 year old women who has had a total hip replacement and left knee replacement 10 years ago.   She has significant osteoarthritis and her surgeon told her that she is no longer a candidate for surgery.  She had been taking NSAID’s but had to stop because she developed  a gastric ulcer.  She wanted to give medical marijuana a try.

3. William was a 72 year old man with HIV neuropathy and nausea/lack of appetite as a result of his HIV medication.   he said that since he started using medical marijuana a month ago he gained 20 lbs and had a significant reduction in his pain.

4. Jennifer was a 62 year old women with significant insomnia since going through menopause.  She has been reluctant to take hormones as she has a strong family history of breast cancer.   She said she has taken melatonin, trazodone, ambien and lunesta without any significant relief.   A few weeks ago a friend encouraged her to try medical marijuana and got great results!

I look forward to a long relationship with this community.  They are certainly some of THE most grateful patients that you will work with.

This condition is a poorly understood illness that affects the bladders of women and men (women up to 9x more likely to get it).  It can cause many different symptoms but the predominant one is pelvic pain.  In my patients case the pain was so severe that it made having sex with their husbands unbearable.  This pain significantly reduced their libido and desire to have sex.   This is a huge quality of life issue that if left untreated can lead to relationship problems.

My patient that I took care of today had not been able to have sex for the past 6 months.  Interestingly she had a girlfriend who used medical marijuana for dysmenorrhea/PMS and told her that it made having sex much more enjoyable.    Acting on her friends advice she decided to try it and got very good results.   She told me that not only did the marijuana take the anxiety of having painful sex away, that her pelvic muscles felt relaxed and she was able to have intercourse pain free!   She said it was the first time in months that she orgasmed and her husband was ecstatic.    The next day he looked up medical marijuana on the internet and found my name in a basic google search.

I am not surprised by her results.  Cannabinoids are proven to reduce muscle spasm, relieve anxiety and can also improve libido.    Although I have not seen any research using marijuana to treat interstitial cystitis, I think there is enough anechdotal evidence for urologists to consider this as a treatment modality.   If, as a physician, you listen to your patients and truly understand their experiences medical marijuana I think it would wise to give it a try.

Modern medicine does not have many good treatment options for IC.   They use a combination of behavioral therapy, pain management and various drugs to try and influence the epithelium of the bladder.  The bottom line is that many of these patients do not get total relief and can develop depression (similar to other pain management conditions).

BELOW IS A BASIC PATIENT INFORMATION HANDOUT FOR PATIENTS WHO WANT TO LEARN ABOUT INTERSTITIAL CYSTITIS

What is painful bladder syndrome and interstitial cystitis? — Painful bladder syndrome is a condition that causes people to have bladder pain and urinate often. Interstitial cystitis is the term doctors use when a person has abnormal changes in the lining of the bladder (figure 1). Painful bladder syndrome and interstitial cystitis sometimes happen together. When they do, it is called “PBS/IC.”

PBS/IC can happen in both men and women, but it is more common in women. Doctors do not know what causes PBS/IC. Sometimes, it happens on its own. Other times, it starts after a person has:

• An infection of the urinary tract, vagina, or prostate
• Surgery on the bladder, pelvis, or back
• An injury to the pelvic area or buttocks

What are the symptoms of PBS/IC? — All people with PBS/IC have bladder pain that gets better after urinating. Other common symptoms include:

• Feeling the need to urinate often, during the day and night (even if you don’t actually urinate)
• Urinating often, during the day and night
• Pain in the lower belly or around the area where urine leaves the body

Symptoms of PBS/IC are different from person to person and can be mild or severe. People might not have symptoms every day. But they can have “flares,” which are times when their symptoms get worse. Some people find that their symptoms get worse at certain times, such as:

• After they have certain foods or drinks
• During certain times of their monthly cycle (in women)
• After having sex or sitting for a long time
• During times of stress

Is there a test for PBS/IC? — Yes. Your doctor or nurse will talk with you, do an exam, and probably do a urine test. Depending on the results, your doctor might do other tests.

For example, some people have a test called “cystoscopy.” During cystoscopy, a doctor puts a thin tube with a camera on the end into the opening in the body where urine comes out (called the urethra). Then he or she advances the tube until it reaches the bladder. That way the doctor can look at the inside of the bladder to see if it is abnormal.

How is PBS/IC treated? — There are different treatments for PBS/IC. Most people need more than 1 treatment. Different treatments can include:

• Bladder training — You can train your bladder to urinate less often by holding your urine for longer periods of time. For example, if you feel the need to urinate every 30 minutes, try to wait and urinate every 45 minutes.
• Physical therapy — Many people with PBS/IC have tight and painful muscles in the lower belly, groin, and buttocks. A physical therapist can teach you exercises to help relax these muscles.
• Medicines — Doctors can use different medicines to treat PBS/IC. Some medicines help heal the bladder lining, and others can reduce pain. Some medicines come as pills. Others come as liquids and go into the bladder through a tube that is put up the urethra (figure 1).
• Surgery — A person might have surgery if he or she still has symptoms after trying all other treatments. During surgery, a doctor puts a small device in the lower back that connects to the nerve that goes to the bladder. The device sends electrical signals to the nerve that can stop it from feeling pain.

Can PBS/IC flares be prevented? — To help prevent flares, you can:

• Avoid the foods and drinks that make your symptoms worse
• Avoid activities that make your symptoms worse
• Get treated quickly for bladder infections, which can make PBS/IC symptoms worse

What if I have long-term pain? — If you have long-term pain, talk with your doctor or nurse about what you can do. Some people find it helpful to work with a mental health expert or join a support group for people with PBS/IC.

His main issue is “counting” and “checking” (i.e did I leave the lights on?).   This has been going on since his teenage years and he has been on numerous psychiatric medications.  He happens to use a cannabis based oil (that he makes at home) and puts one teaspoon in his tea in the morning.  He stated that it “mellows me to the point where I no longer focus on my obsessions.”   In his words “I don’t know what I would do without medical marijuana.”

In my practice I have seen about a dozen patients who medicate with cannabis to treat OCD.  Most have received significant benefit, to the point where I think further research should be mandated!  Unfortunately, the federal government will not allow it.   Until then, in 16 states, patients can experiment under the care of a medical doctor to see if medical marijuana will work.

Below is the list of potential side effects of one of the medications that is commonly used to treat OCD. NO WONDER PATIENTS WANT MEDICAL MARIJUANA.  THIS LIST IS RIDICULOUS!

Until then, if you would like more information feel free to come in for a consultation.  877-721-0047 or contact us via email at mcsocal@me.com

Be blessed,

Dr. Breen

Adverse Reactions Significant

Data shown for children reflects both children and adolescents studied in clinical trials.

>10%:

Central nervous system: Dizziness (54%), somnolence (54%), drowsiness, headache (52%; children 28%), fatigue (39%), insomnia (25%; children 11%), malaise, nervousness (18%; children 4%)

Endocrine & metabolic: Libido changes (21%), hot flushes (5%)

Gastrointestinal: Xerostomia (84%, children 63%) constipation (47%; children 22%), nausea (33%; children 9%), dyspepsia (22%; children 13%), weight gain (18%; children 2%), diarrhea (13%; children 7%), anorexia (12%; children 22%), abdominal pain (11%), appetite increased (11%)

Genitourinary: Ejaculation failure (42%), impotence (20%), micturition disorder (14%; children 4%)

Neuromuscular & skeletal: Tremor (54%), myoclonus (13%; children 2%), myalgia (13%)

Ocular: Abnormal vision (18%; children 7%)

Respiratory: Pharyngitis (14%), rhinitis (12%)

Miscellaneous: Diaphoresis increased (29%; children 9%)

1% to 10%:

Cardiovascular: Flushing (8%), postural hypotension (6%), palpitation (4%), tachycardia (4%; children 2%), chest pain (4%), edema (2%)

Central nervous system: Anxiety (9%), memory impairment (9%), twitching (7%), depression (5%), concentration impaired (5%), fever (4%), hypertonia (4%), abnormal dreaming (3%), agitation (3%), confusion (3%), migraine (3%), pain (3%), psychosomatic disorder (3%), speech disorder (3%), yawning (3%), aggressiveness (children 2%), chills (2%), depersonalization (2%), emotional lability (2%), irritability (2%), panic reaction (1%)

Dermatologic: Rash (8%), pruritus (6%), purpura (3%), dermatitis (2%), acne (2%), dry skin (2%), urticaria (1%)

Endocrine & metabolic: Amenorrhea (1%), breast enlargement (2%), breast pain (1%), hot flashes (5%), lactation (nonpuerperal) (4%)

Gastrointestinal: Taste disturbance (8%), vomiting (7%), flatulence (6%), tooth disorder (5%), dysphagia (2%), esophagitis (1%)

Genitourinary: UTI (2% to 6%), micturition frequency (5%), dysuria (2%), leucorrhea (2%), vaginitis (2%), urinary retention (2%)

Neuromuscular & skeletal: Paresthesia (9%), back pain (6%), arthralgia (3%), paresis (children 2%), weakness (1%)

Ocular: Lacrimation abnormal (3%), mydriasis (2%), conjunctivitis (1%)

Otic: Tinnitus (6%)

Respiratory: Sinusitis (6%), coughing (6%), bronchospasm (2%; children 7%), epistaxis (2%)

<1% (Limited to important or life-threatening): Accommodation abnormal, albuminuria, aneurysm, anticholinergic syndrome, aphasia, apraxia, arrhythmia, ataxia, atrial flutter, blepharitis, blood in stool, bradycardia, breast fibroadenosis, bronchitis, bundle branch block, cardiac arrest, cardiac failure, catalepsy, cellulitis, cerebral hemorrhage, cervical dysplasia, cheilitis, cholinergic syndrome, choreoathetosis, chromatopsia, chronic enteritis, coma, conjunctival hemorrhage, cyanosis, deafness, dehydration, delirium, delusion, diabetes mellitus, diplopia, dyskinesia, dysphonia, dystonia, EEG abnormal, encephalopathy, endometrial hyperplasia, endometriosis, epididymitis, erythematous rash, exophthalmos, extrapyramidal disorder, extrasystoles, gastric ulcer, generalized spasm, glaucoma, glycosuria, goiter, gynecomastia, hallucinations, heart block, hematuria, hemiparesis, hemoptysis, hepatitis, hostility, hyperacusis, hypercholesterolemia, hyper-/hypoesthesia, hyperglycemia, hyper-/hypokinesia, hyper-reflexia, hyper-/hypothyroidism, hyperuricemia, hyper-/hypoventilation, hypnagogic hallucination, hypokalemia, ideation, intestinal obstruction, irritable bowel syndrome, keratitis, laryngismus, leukemoid reaction, lupus erythematosus rash, lymphadenopathy, lymphoma-like disorder, maculopapular rash, manic reaction, marrow depression, myocardial infarction, myocardial ischemia, myopathy, myositis, neuralgia, neuropathy, oculogyric crisis, oculomotor nerve paralysis, oral/pharyngeal edema, ovarian cyst, paralytic ileus, paranoia, parosmia, peptic ulcer, peripheral ischemia, phobic disorder, photophobia, photosensitivity reaction, pneumonia, polyarteritis nodosa, premature ejaculation, psychosis, pyelonephritis, pyuria, rectal hemorrhage, renal calculus, renal cyst, schizophrenic reaction, scleritis, seizure, sensory disturbance, skin ulceration, strabismus, stupor, suicidal ideation, suicide, suicide attempt, thrombophlebitis, tongue ulceration, tooth caries, torticollis, urinary incontinence, uterine hemorrhage, uterine inflammation, vaginal hemorrhage, vasospasm, ventricular tachycardia, visual field defect, withdrawal syndrome

At the end of my blog I include a basic patient handout that goes the basics about the disease.     My goal is to educate patients on the various uses of medical marijuana to treat a variety of diseases and symptoms.

In this case, my patient was able to stop 4 different medications as a result of using medical marijuana.

1. Tertabenazine:  he had been using this to control his chorea (involuntary muscle movements caused by damage to neurons. For example patients may flex their arms uncontrollably).   This medication also cause him to be nauseous and gave him occasional diarrhea.    Cannabinoids (medically active ingredient in the plant) are known to reduce muscle spasm.   I have seen it used in epileptic patients successfully to reduce the incidence of seizures.   In this case his involuntary movements were kept to a minimum by using an edible in the morning.   He preferred indica strains for this symptom.

2. Ambien: because he was in a wheel chair most of the day he had a lot of muscle soreness and made falling asleep very difficult.    He can now use medical marijuana instead of ambien to fall alsleep at night.  Typically he uses 2 doses of a indica dominant hybrid using a vaporizer 45 minutes prior to lying down.   He says that he now falls asleep within 20 minutes (on avg) of putting his head on his pillow.

3. Ibuprofen:  he used to use a lot of ibuprofen to regulate arthritis and muscle soreness from physical atrophy and being in a wheelchair.    The same edible he uses in the morning to control his chorea also eliminates his need for taking Ibuprofen.   We know that cannabinoids, specifically cannbinol (CBD), has potent anti-inflammatory effects on the body.   Growers of medical marijuana are trying to create high CBD strains to reduce inflammation while also lowering THC levels to limit the psychoactive effects.

4.  Anxiety:  patients with Huntington Disease, or any chronic debilitating disease for that matter, typically suffer from some level of depression and anxiety.    He has been able to stop xanax completely as a result of that same morning edible.

It is pretty humbling as a western trained physician to see patients eliminate 4 FDA approved drugs by using one simple plant.   It really does improve the overall quality of my patients lives.   Less money spent on drugs, fewer drug related side effects and a renewed feeling of being in charge of their lives again.

BASIC PATIENT INFORMATION:

What is Huntington disease? — Huntington disease is a disorder that causes people to move in odds ways and that can affect their mood and the way they think. In people with Huntington disease, nerve cells in a part of the brain die. The disease is passed on in families. If your mother or father has Huntington disease, you have a 50-50 chance of having it, too.

People with Huntington disease usually start to show symptoms between the ages of 40 and 60. Some people show symptoms much earlier.

What are the symptoms of Huntington disease? — The symptoms can include:

• Movements that you can’t control in the face, trunk, arms, or legs
• Feeling depressed, anxious, irritable, angry, or like you don’t care about anything
• Trouble interacting with other people
• Seeing or believing in things that are not there (called hallucinations)
• Trouble thinking clearly and forgetting things
• Weight loss

At first, the symptoms may be very slight, but they slowly get worse over time.

People with Huntington disease are at risk of suicide. If you feel sad or depressed, talk to your doctor or nurse about it. There are often treatments that can help.

Is there a test for Huntington disease? — Yes. There is a blood test to check for the gene that causes Huntington disease. Some people have this test before they show any symptoms. But if you are thinking of having this test, ask your doctor to send you to a genetic counselor before you have the test. A genetic counselor can help you learn about all the possible risks and benefits of having the test. For instance, a genetic counselor can help you find out:

• What the chances are that your kids will have Huntington disease
• How soon you might have symptoms, if the test shows you have the disease
• Whether you could have problems with insurance if the test shows you have the disease

How is Huntington disease treated? — There is a medicine that helps with the movement problems caused by Huntington disease. It is called tetrabenazine (sold as Xenazine®). If it doesn’t work, there are other medicines that can help with movement.

There are no medicines that deal with all the symptoms of Huntington disease. But there are lots of treatments to help with specific symptoms. For instance, people who are depressed or anxious can take depression and anxiety medicines. Likewise, people who see things that are not real can take medicines to deal with that problem.

People with Huntington disease sometimes also use walkers, wheelchairs, or other devices that can help them manage their problems. Plus, they sometimes work with physical or speech therapists to learn special exercises that can help them manage.

Unfortunately, there is no cure for Huntington disease. Most people die 10 to 30 years after the symptoms begin. If you have the disease, talk to your loved ones about the type of care you would like to have when you get really sick. That way they will know what to do, even if you become unable to speak for yourself.

What if I want to get pregnant? — Talk to your doctor nurse before you start trying to get pregnant. If you are taking medicines, you might need to switch to different medicines that are safer for a baby. You also might want to talk to a genetic counselor about the chances that any children you might have would develop Huntington disease.

My patient has had severe pain from being wheelchair bound for the past 4 years.   He describes cramping and spasm in his forearms and anterior calf muscles.   This causes difficulty sleeping which has affected his mood and overall outlook on life.    He was tired of using sleep aids like ambien or lunesta because when he wakes up he “feels like a zombie”.  His primary care doctor offered him Lexapro to help improve his mood but he hated how he felt on it.    To treat his muscle pain he had been taking NSAID’s like ibuprofen or alleve.  They were only minimally affective.

It was three months ago that one of his friends offered him medical marijuana to help him feel better.   He said the results were “amazing”.   His muscle cramping was reduced considerably and he was able to sleep through the night and did not have the morning hangover that he experienced using prescription medication.   Overall, his outlook on his life improved tremendously.   This is very common in patients with chronic debilitating inherited diseases.   Medical marijuana can truly improve their mood, reduce pain and improve the quality of their lives.

In my office I discussed with him how to inhale the medicine smoke free using a vaporizer and went over all the different strains of cannabis and how to get quality medicine.    He left feeling very confident and comfortable in his treatment plan.

I encourage any patient who has severe muscle pain, spasm, is wheelchair bound or has difficulty sleeping to consider trying medical marijuana to help improve the quality of your life.

MUSCULAR DYSTROPHY OVERVIEW — Muscular dystrophy is an inherited disorder that causes progressive muscle weakness (myopathy) and atrophy (loss of muscle mass) due to defects in one or more genes required for normal muscle function. Some of the genes responsible for these conditions have been identified.

There are a number of different types of muscular dystrophy (table 1). The primary symptom for most types is muscle weakness, although some dystrophies also cause heart disease or reduced mental ability. The diseases are distinguished from one another by the type of symptoms and the nature of the genetic abnormality causing the disorder.

MUSCULAR DYSTROPHY GENETICS — The genetic defect that causes muscular dystrophy is passed from one or both parents to a child by a specific pattern of inheritance that varies from one type of muscular dystrophy to another. A brief explanation of how genes are inherited will assist in explaining how children develop muscular dystrophy.

In the process of reproduction, a male’s sperm and female’s egg each contributes one sex chromosome. Males have XY sex chromosomes while females have XX sex chromosomes; the male can contribute the X or Y chromosome, while the female must contribute one of their X chromosomes. A male infant results if the male contributes his Y chromosome while a female infant results if he contributes his X chromosome (figure 1).

• Duchenne and Becker muscular dystrophy and some types of Emery-Dreifuss muscular dystrophy are caused by mutations on one of the X chromosomes carried by the female parent. These muscular dystrophies affect 50 percent of male infants of mothers who carry the genetic defect; this is called X-linked inheritance. Females who inherit their mother’s defective X chromosome are usually disease free, although mild symptoms can occur occasionally (figure 2) (see ‘Female DMD carriers’ below).
• Myotonic muscular dystrophy, facioscapulohumeral muscular dystrophy, some types of congenital muscular dystrophy, one type of Emery-Dreifuss muscular dystrophy, and some types of limb-girdle muscular dystrophy can develop if either of the parent’s chromosomes carries the defect and is passed to the infant; this is called autosomal dominant inheritance.
• Most types of congenital muscular dystrophy, a rare form of Emery-Dreifuss muscular dystrophy, and some types of limb-girdle muscular dystrophy develop if both the mother and father pass a defective chromosome to their infant; this is called autosomal recessive inheritance.

MUSCULAR DYSTROPHY MUSCLE FUNCTION — Normally, electrical signals travel from the brain through the spinal cord and into the nerves that lead to the muscles. From there, the signals are transmitted into the muscles, where they stimulate muscle tissue to contract. Along the way, the nerves must be in good working order, and the muscles must be able to accept the impulses and generate a response.

Problems can occur anywhere along this route. If the brain, spinal cord, or nerves are damaged or diseased, the electrical signal may not be generated or get through. If muscles are inflamed or abnormal, they may not be able to respond properly to a nerve impulse.

Diseases of muscles that cause weakness are called myopathies. With myopathy, nerve impulses usually reach the muscles without any problem, but the muscles are unable to respond in a normal way due to the disease.

Many things can cause myopathy to occur, a few of which include:

• Inflammation of the muscles
• Inherited conditions, particularly muscular dystrophies
• Problems with certain hormones that affect muscle function
• Chemical imbalances in the body
• Drugs and toxic substances
• Infections

MUSCULAR DYSTROPHY TESTS — A number of tools can be used to diagnose muscular dystrophy, including genetic testing, blood tests that identify the signs of muscle damage, electromyography (EMG), muscle biopsy, electrocardiogram (ECG), and/or echocardiogram (ECHO), which is an ultrasound of the heart. Tests are chosen based upon the type of disease that is suspected. This is particularly true of genetic tests, which must be tailored to search for specific abnormalities.

Electromyography — Electromyography (EMG) is a test that evaluates the electrical activity of muscles both at rest and during voluntary movement. Abnormalities in this activity can indicate the presence of a muscle or nerve disease.

A small needle is inserted through the skin into a muscle in several locations (usually the arms and legs). The needle is connected to a recording device that displays the muscle’s electrical activity at rest and in response to contraction. The electrical activity may also be heard as a static-like noise through a speaker.

The size and pattern of electrical activity recorded from different muscles is analyzed by the physician who supervises the EMG test to determine whether the muscles and nerves are functioning normally.

The test generally takes about 30 minutes. A patient may feel some discomfort as the needle is inserted, and the muscle may feel sore or bruised for several days. EMG is very useful in determining whether there is weakness due to muscle disease. However, it does not provide a specific diagnosis; genetic testing or muscle biopsy may be more useful if muscle weakness is obvious.

Muscle biopsy — A muscle biopsy is a procedure that removes one or more small piece(s) of muscle from either an arm or leg. Muscle biopsies can sometimes provide a specific diagnosis. However, muscle biopsies are done less frequently than previously because of the increased availability of genetic testing.

The biopsy may be done by making a small incision and removing a piece of muscle or by using a thick needle (called a punch biopsy), which removes a small cylindrical piece of muscle. The type of biopsy used will depend upon the physician’s preference and need to examine the muscle directly before biopsy. Both types of biopsy can be done in an office or clinic setting, usually with local anesthesia (medication is injected to numb the area).

DUCHENNE MUSCULAR DYSTROPHY — Duchenne muscular dystrophy (DMD) is caused by a defective gene located on the X chromosome. This gene is responsible for producing a protein called dystrophin, which normally functions to protect muscle fibers. Without dystrophin, muscles are broken down by enzymes, which cause degeneration and ultimately weakness of muscles.

DMD occurs in 1 in 3500 (0.02 percent) of all males. It is primarily seen in boys, and occurs in all ethnic groups.

Female DMD carriers — Most female carriers of the abnormal dystrophin gene have few or no symptoms of their disease. Muscle weakness develops in 2.5 to 20 percent of females. Symptoms may present early in life and become progressive (worsen) in certain situations.

Women who have no symptoms but who have a family history of muscular dystrophy and want to become pregnant can consider specialized testing; this can help to determine if the woman is a carrier of the defective gene. However, testing is not always accurate in identifying female carriers. Any woman with a family history of muscular dystrophy should consider genetic counseling to discuss the probability of having an affected child.

If testing confirms that the woman is a carrier, she can consider preimplantation genetic diagnosis to avoid passing the defective gene to her child. (See “Preimplantation genetic diagnosis”.)

Symptoms — Symptoms of DMD usually appear in children between age two and three years. Children are usually wheelchair bound by age 12 to 15 years. These ages represent the average for all patients with DMD; individual patients may develop symptoms earlier or later in life.

Weakness starts near the trunk, and spreads to the extremities, affecting the legs before the arms. A child may have difficulty running, jumping, and walking up steps, and may use their hands to push upright from squatting or sitting (called Gower’s sign).

DMD may also cause heart problems, including enlargement of the heart tissue (dilated cardiomyopathy) and irregular heartbeat. Abnormal curvature of the spine (scoliosis) combined with muscle weakness can lead to problems with lung function. Fractures involving the arms and legs are frequent, usually caused by falling. In many cases, affected children have some degree of mental impairment, although some children have average or above-average intelligence. (See “Patient information: Dilated cardiomyopathy”.)

Management of DMD — Early identification of children who are affected by DMD is important to prevent complications and prolong life. Recommendations for managing and preventing problems in these children include:

• Pneumococcal vaccine (given once) to help prevent pneumonia, and annual influenza vaccine for children six months of age and older. (See “Patient information: Vaccines for infants and children age 0 to 6 years”.)
• Screening (usually by echocardiography or cardiac MRI) and early treatment for cardiomyopathy, starting at around age 10 years. Female carriers may be screened beginning in the teens. (See “Patient information: Dilated cardiomyopathy”.)
• Lung treatment while sleeping (nocturnal noninvasive ventilation) or respiratory assistance during periods of lung infection is recommended. Lung function testing should begin around age 9 or 10 years, before the child becomes wheelchair bound, and should be repeated several times per year when lung function worsens or the child requires a wheelchair.
• Bone density should be maintained to reduce the risk of fractures by ensuring that the child has a diet rich in calcium and vitamin D. Parents should monitor their child’s weight to avoid excessive weight gain and obesity; a nutritionist can assist with food planning.
• Physical therapy can help to maintain muscle function and prevent joint stiffening (contractures). Leg braces can assist with standing and walking. X-rays are taken periodically to monitor for changes in the bones.
• Surgery can help correct joint contractures, especially at the ankle. Lengthening and transferring tendons can return the joint to its normal position and prolong walking with, and sometimes even without, braces. Spinal fusion operations have been very effective in correcting scoliotic deformities and maintaining upright sitting position in a wheelchair.
• Scoliosis, or curvature of the spine, is a common complication of DMD. When severe, it can cause breathing problems, so that surgical treatment may be necessary. In less severe cases, braces may be effective.

Treatment of DMD — Steroids (such as prednisone or deflazacort) are the primary treatment for DMD and are generally offered to boys who are over the age of five years. Steroids have been proven to significantly increase strength, muscle function, and lung function.

Regular visits with a healthcare provider are needed to monitor the benefits and potential side effects of prednisone treatment. Side effects can include weight gain, swelling in the face, decrease in height, osteoporosis, long bone and vertebral bone fractures, acne, excessive hair growth, gastrointestinal symptoms, and behavioral changes. The dosage can be adjusted if excessive weight gain occurs.

Treatments other than steroids have not been extensively studied or proven to be effective and safe.

Prognosis — In early studies, most patients with DMD died in their late teens or twenties as a result of respiratory infections or cardiomyopathy. However, later studies have reported a median survival to age 35 years. Thus, survival appears to be improving with advances in respiratory care and cardiac care. Again, these ages represent the average for all patients with DMD; individual patients may have complications earlier or later in life. (See ‘Life with muscular dystrophy’ below.)

BECKER MUSCULAR DYSTROPHY — The pattern of inheritance of Becker muscular dystrophy (BMD) is the same as DMD, with the abnormal gene carried by the mother. It also occurs mainly in boys. BMD is also caused by problems with the dystrophin gene, although people with BMD often have partial production of dystrophin.

Female BMD carriers — Female carriers of the abnormal dystrophin gene that causes BMD are similar to those that carry the DMD gene (see‘Female DMD carriers’ above).

Symptoms — Compared with DMD, the age of onset for children with BMD is usually later and symptoms are usually milder. Children can usually walk until they are approximately 15 years old, with some people continuing to walk as adults. Mental impairment is less common than with DMD. Similarly, heart problems are not common; when they occur, they can be more severe in patients with BMD than in those with DMD.

Management of BMD — Management of patients with BMD is similar to that of DMD (see ‘Management of DMD’ above).

Treatment of BMD — Prednisone may be used for treatment of BMD, although little is known about its effect on the symptoms and disease progression (see ‘Treatment of DMD’ above).

Prognosis — Patients with BMD usually survive into their mid 40s. The most common cause of death is heart failure from cardiomyopathy.

BMD/DMD OUTLIERS — Some patients are found to have the genetic abnormalities of the dystrophin gene, but, clinically, have symptoms between those of DMD or BMD. These so-called “outliers” may be thought of as having mild DMD or severe BMD. They usually become confined to a wheelchair between the ages of 12 and 16 years.

EMERY-DREIFUSS MUSCULAR DYSTROPHY — Emery-Dreifuss muscular dystrophy (EDMD), also known as humeroperoneal muscular dystrophy, can be caused by a number of inheritance patterns. It can affect both boys and girls.

Symptoms of muscle weakness and loss typically begin in the arms between 10 and 20 years of age. Leg muscle weakness follows and, in some cases, mild facial weakness is also seen. The disease tends to progress slowly. Contractures of the elbows are sometimes the first sign of disease. Involvement of the heart is also common, and can lead to serious problems with the regulation of heartbeat.

EDMD is usually diagnosed based upon signs and symptoms, family history, and genetic testing. Treatment is focused on preventing death from heart disease. A pacemaker can be lifesaving in patients with arrhythmia. (See “Patient information: Pacemakers”.) Physical therapy is useful in preventing contractures.

MYOTONIC DYSTROPHY — Myotonic dystrophy is the most common form of adult-onset muscular dystrophy. It can affect both boys and girls. Symptoms typically occur in adolescence or adulthood, although a newborn form does occur. There are two genetic forms of myotonic dystrophy, type 1 and type 2.

Myotonic dystrophy affects multiple body systems, causing muscle loss and weakness, especially in the facial muscles, arms, and legs. In addition, myotonic dystrophy can cause heart problems, cataracts, problems with glands, and abnormal intellectual functioning. In some cases, there are joint problems or difficulty swallowing. Excessive daytime sleepiness is found in about one-third of patients with myotonic dystrophy.

Myotonia, or delayed muscle relaxation after contraction, is also seen, but this problem typically does not require treatment. Pulmonary function tests, swallowing studies, and heart tests are often used in the management of myotonic dystrophy. People with myotonic dystrophy are treated as symptoms develop. Leg braces are often used as weakness in the legs and feet worsen.

Life expectancy appears to be reduced for people with myotonic dystrophy. Respiratory and cardiac diseases are the most common causes of death.

LIMB-GIRDLE MUSCULAR DYSTROPHY — Limb-girdle muscular dystrophy (LGMD) is a group of disorders that have a number of inheritance patterns. It refers to dystrophies that affect the shoulder girdle (or area surrounding the shoulder), the pelvic girdle (the area surrounding the hips), or both. Low back pain may be a prominent symptom.

The age of onset varies from early childhood to adulthood. The course is usually slowly progressive. Cognitive (brain) functioning is usually normal and cardiac involvement is rare.

Treatment of LGMD focuses on the prevention of contractures. Stretching exercises are often recommended after diagnosis, and are useful to prevent disabling symptoms.

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY — Facioscapulohumeral muscular dystrophy (FSHD) can affect boys and girls. It is usually progresses slowly, but is extremely variable in its severity and age of onset. It is usually inherited in an autosomal dominant pattern, which means that a parent with the disease has a 50 percent chance of passing it to their child.

In the infant form, symptoms appear within the first few years of life. Most children require a wheelchair by the age of 9 or 10 years. There is profound facial weakness, with an inability to close the eyes in sleep, to smile, or to show other facial expressions. The weakness rapidly progresses to include the shoulder and hips. There may be marked weakness of the wrist. Children with early onset FSHD may have epilepsy, reduced mental ability, and severe hearing loss.

In the classic form, symptoms usually begin between 20 and 30 years of age. Progression is slow, and the life span is near normal. The facial muscles are involved initially, with inability to close the eyes tightly, smile, or whistle. There may be a pouting appearance to the face. The facial weakness can be mild and may remain mild for many years. The muscles of the shoulders and upper arms are usually involved.

In some of cases, the disease progresses rapidly in middle age, leading to significant disability. There may be problems with vision or hearing. The heart’s rhythm can be affected in some patients.

CONGENITAL MUSCULAR DYSTROPHY — Congenital muscular dystrophy (CMD) refers to cases of muscular dystrophy that are apparent at birth. There are several types, including a classic form, Fukuyama type (seen primarily in Japan), Ullrich congenital muscular dystrophy, Bethlem myopathy, Walker-Warburg syndrome, and muscle-eye-brain disease.

Symptoms of CMD are usually seen at birth, and include lack of muscle strength (“floppy baby”) and multiple joint contractures (arthrogryposis). No definitive treatment is available for CMD.

LIFE WITH MUSCULAR DYSTROPHY — Many children and adults with muscular dystrophy can lead active lives. However, the diagnosis of muscular dystrophy can be overwhelming for a parent and a child. Support and education from healthcare providers and community organizations can help a family to provide their child with the best possible care. Organizations such as the Muscular Dystrophy Association (www.mdausa.org) have a large network of support services and information available. A week-long summer camp is available in many locations throughout the United States.

Parents are often unsure about how to discuss muscular dystrophy with their child. Because it is a slowly progressing disease in most cases, parents are not obligated to discuss their child’s long term prognosis until the child is mature enough to understand the implications of their diagnosis. Most children have an understanding of death by the age of 7 years, but even before this point, children want and deserve to know basic information about their disease and treatments that may be needed. In the terminal stages of illness, adolescents and young adults may want to participate in the decision making processes about end of life care, resuscitation options, and the location of their care.

WHERE TO GET MORE INFORMATION — Your healthcare provider is the best source of information for questions and concerns related to your medical problem.