Late-onset distal myopathy, Markesbery-Griggs type

Orpha code: 98912OMIM code: 609452

Definicja

A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.

Disease data
Klasyfikacja

Disease

Synonimy
ZASP-related myofibrillar myopathy
Miopatia miofibrylarna związana z ZASP
Kod ORPHA
98912
Kod OMIM
609452
Kod ICD10
G71.8
Kod ICD11
-

No additional description.

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