vitalwiki

Титинозалежна мязова дистрофія скелетних мязів кінцівок R10

ORPHA:140922· ICD-10 G71.0· Titin-related limb-girdle muscular dystrophy R10

Визначення(English summary)

A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Adolescent, Adult, Childhood