has material basis in germline mutation in HSPB8 congenital nervous system disorder neuronopathy, distal hereditary motor, autosomal dominant myofibrillar myopathy myopathy, myofibrillar, 13, with rimmed vacuoles https://github.com/monarch-initiative/mondo/issues/9156 https://www.malacards.org/card/autosomal_dominant_distal_axonal_motor_neuropathy_myofibrillar_myopathy_syndrome UMLS:C5568137 rimmed vacuoles myopathy HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome DOID:0051045 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MFM13 MONDO:0976133 Age of onset is typically in the second to third decade of life. Patients present with slowly progressive muscle weakness and atrophy initially affecting the distal lower limbs and later progressing to involve proximal limbs and also truncal muscles. There is no involvement of respiratory and cardiac muscles. MEDGEN:1799560 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. GARD:0027428 HSPB8-associated autosomal dominant rimmed vacuolar myopathy OMIM:621078 limb-girdle rimmed vacuolar myopathy Orphanet:476093