Distal myopathy with anterior tibial onset

Orpha code: 178400OMIM code: 606768

Definicja

A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

Disease data
Klasyfikacja

Disease

Synonimy
Distal anterior compartment myopathy
Distal anterior compartment myopathy
Kod ORPHA
178400
Kod OMIM
606768
Kod ICD10
G71.0
Kod ICD11
8C75

No additional description.

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