POMGNT1-related limb-girdle muscular dystrophy R15

Orpha code: 206564OMIM code: 613157

Definition

A form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.

Disease data
Classification

Disease

Synonyms
Autosomal recessive limb-girdle muscular dystrophy type 2O
LGMD2O
LGMD type 2O
LGMD2O
Limb-girdle muscular dystrophy type 2O
POMGNT1-related LGMD R15
ORPHA code
206564
OMIM code
613157
ICD10 code
G71.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl