Distal myopathy with anterior tibial onset

Også kjent som: Distal myop. Ant. tibial onset
Engelsk navn: Distal myopathy with anterior tibial onset
Engelske synonym: Distal anterior compartment myopathy


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.

Fra Orphanet

ORPHA: 178400
Klassifiseringsnivå: Disorder
ICD-10: G71.0

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