Hweber

Muscular Dystrophy

What is MD?

MD is a group of inherited disorders that involve weakness of the muscles, as well as deterioration of muscle tissue. It does get worse with time.

There are many types of MD

Duchenne MD-Worsens quickly; caused by a defective gene for dystrophin (a protein found in muscles); often occurs in people without a known family history of the condition; boys are affected; girls can only be carriers; 1 in every 3600 male infants! ; This type is fatal.

Becker MD-similar to Duchenne MD except it gets worse at a much slower rate and it is less common (3-6 out of every 100,000 births); Occurs mostly in boys.

Emery-Dreifuss MD

Facioscapulohumeral MD

Oculopharyngeal MD

Limp-girdle MD

Myotonia Congenita

Myotonic Dystophry

Symptoms

-Vary with each type

-All muscles may be affected or only specific groups of muscles may be affected

-Can affect adults, but more severe forms usually manifest early in life

*Mental retardation (in some forms)

*Slowly developing muscle weakness

~In children: delayed development of muscle motor skills, problems in walking/delayed walking

~In adults: loss of strength in a muscle (group), problems walking

~In all ages: difficulty using 1 or more muscle groups, drooling (excessive & persistent after infancy/toddler age), eyelid drooping, frequent falling, loss in muscle size

Diagnosis/Testing

Family medical history is important in determining if MD is present, especially in determining the type.

A physical exam MAY show an abnormally curved spine (scoliosis), joint contractures (clubfoot, clawhand), & low muscle tone (hypotonia).

Muscle biopsy (needle or open biopsy) can confirm the diagnosis. In some cases, all that is necessary is a DNA blood test.

Other tests: ECG (electrocardiography-heart)

EMG (electromyography-nerve)

Blood testing-including CPK levels

Genetic testing, in some cases

Treatment

There is no...