| Features |
Muscle
fiber degeneration with progressive weakness. |
Etiology
|
Lack
of a protein, dystrophin, along muscle fiber membranes. |
Heredity
|
Chromosome
X-linked. |
Affected
sex
|
Male
(female carriers may occasionally be affected). |
Clinical
onset
|
Around
2-3 years of age. |
Evolution
|
Progressive,
irreversible. |
Initially
involved muscles
|
Upper
and lower limb girdles. |
Onset
symptoms
|
Difficulty
in running, tendency to tiptoe walking, frequent falls. |
Disability
(wheelchair)
|
Around
age 12 years. |
Exitus
|
Before
age 30 years. |
| Spared
muscles |
Mainly
face muscles. |
| Other
features |
Hyperlordosis
- calf pseudohypertrophy (80%) - mental retardation (30 %) -
cardiac arrhythmias |
