Dystrophies begin in shoulders, hips

DEAR DR. ROACH>> I have two boys diagnosed with limb girdle muscular dystrophy.

I am looking everywhere for some help, but can’t seem to find anything.

Is there a cure?

— F.I.I.

ANSWER>> There are many types of muscular dystrophy. Some start in childhood; others later in life.

The limb-girdle muscular dystrophies are a diverse group of inherited disorders, caused by many different genetic abnormalities.

The most common of these starts in childhood.

“Limb-girdle” means that the symptoms of the disease usually start in the muscles around the hips and shoulders, as opposed to the muscles of the hands and feet.

The prevalence of all types of LGMD together is estimated to be about 2 in every 100,000 people.

The diagnosis of childhood-onset muscular dystrophy usually starts with a parent who notices something wrong, followed by a careful history, exam and appropriate blood testing by the pediatrician. Since there are many types of muscular dystrophy, further testing and consultation with an expert are usually necessary.

The exact diagnosis used to be made by muscle biopsy, but it is now most commonly made by genetic testing.

Sometimes both are needed.

Because the diseases within the LGMD group are so diverse, I can’t give you details on how the condition will progress in your boys.

Even your two boys may have very different onset and types of symptoms.

I can point you to an excellent resource with lots more information at mda.org/disease/limb-girdle-muscular-dystrophy.

They can connect you with experts near your area.

Unfortunately, there is no cure yet and, as of now, no treatment that can slow down the progression of LGMD.

There are some new types of treatments being researched, including gene therapy, and I sincerely hope that effective treatments are not too far away.

Contact Dr. Roach at ToYourGoodHealth@med. cornell.edu.