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Up to: Congenital nervous system disorder · Myofibrillar myopathy · Neuronopathy, distal hereditary motor, autosomal dominant
Myopathy, myofibrillar, 13, with rimmed vacuoles
A rare genetic neuromuscular disease caused by a mutation in HSPB8 gene, characterized by length-dependent axonal motor neuropathy predominantly affecting the lower limbs, in combination with a myopathy with morphological features of myofibrillar myopathy with aggregates and rimmed vacuoles.
This condition has no sub-types.