MUSCULAR DYSTROPHIES

A group of inherited, progressive muscle disorders

Heterogeneous group of inherited disorders characterized by progressive
muscle weakness and wasting (regeneration of muscle tissue fails)
Heart and organs can also be affected
9 major types:
Duchenne, myotonic, becker, limb-girdle, facioscapulohumeral,
congenital, oculopharyngeal, distal, and emery- dreifuss
Some types only affect men

Cause

Occur due to mutations in the DMD, gene encoding the dystrophy protein
Defects in certain genes
When the gene fails to produce dystrophin, Duchenne MD occurs
Gene abnormality or mutation

Symptoms

Typically related to gait, including delayed onset of walking, toe walking or a

waddling gait
Some individuals with this disease experience mild symptoms, while others
suffer from severe muscle weakness, dying at an early age
All forms: muscle weakness
Myotonic: muscle spasms or stiffening after use, hand weakness, foot drop
Duchenne and Becker: clumsiness, frequent, falling, difficulty getting up,
waddling gait, curvature of the spine
Drooling, eyelid drooping

Effect

Fatty replacement and fibrosis of calf muscles leads to enlargement best

termed pseudo hypertrophy
Treatment

No cure
Medications and therapy can relieve symptoms and slow progression of the
disease
However, scientists are researching ways to insert a working dystrophin gene
into muscles of boys with Duchenne and Becker MD
Researchers also exploring potential muscle-building drugs to help reverse
progression
 Dietary supplements, creatine, and glutamine are other potential treatments
being studied
Braces and wheelchairs, and canes can improve mobility
Surgery on the spine or legs also may be in the option
exercise