Autosomal recessive distal muscular dystrophy: A comparative study with distal myopathy with rimmed vacoule formation

Abstract

To clarify the clinical and morphological characteristics of distal muscular dystrophy, clinical and pathological material from 4 affected persons was compared with similar studies in 4 patients with distal myopathy with rimmed vacuole formation. Although these two forms of autosomal recessive distal myopathy with onset in young adulthood were highly similar in their clinical symptoms, histochemical and electron microscopic findings of muscles subjected to biopsy were quite different. The muscle abnormalities in distal muscular dystrophy were almost the same as those in Duchenne muscular dystrophy, showing massive fiber necrosis followed by active fiber regeneration. In contrast, distal myopathy with rimmed vacuole formation showed a progressive muscle fiber atrophy and loss, rimmed vacuoles in the sarcoplasm, and no apparent fiber necrosis or regeneration.

Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9

“…There were consanguineous marriages in five of the seven families. DMRV was diagnosed based on the following findings: (1) distal muscle weakness beginning in early adulthood, (2) early selective involvement of the anterior compartment in the legs, (3) mild elevation of serum creatine kinase level (less than five times the normal level), (4) mixed electromyographic pattern of neurogenic and myogenic changes in the absence of other identifiable causes of myopathy, ( 5 ) histopathology of biopsied muscle demonstrating rimmed vacuoles in muscle fibers without inflammatory infiltration of lymphocytes, and (6) inheritance corisistenr with an autosoma1 recessive trait [I, 2, 71.…”

Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles

“…Muscle biopsy of this disorder is characterized by many rimmed vacuoles, which are particularly abundant in atrophic fibers. Necrotic and regenerating fibers are rarely seen (3). The nucleus occasionally contains tubulofilamentous inclusions of 15-20 nm in diameter.…”

Hereditary rimmed vacuole myopathy showing interstitial amyloid deposition in muscle tissue

“…HIBM/DMRV is a well-known hereditary myopathy that is characterized by autosomal recessive inheritance, involvement of the anterior tibial muscle, numerous RV with few other detectable pathogenic changes in the muscle fibers, and mutations in the GNE gene. 2,8 Although atypical phenotypes of HIBM/DMRV have been reported, 8 our family, who had no mutations in the GNE gene, had a condition that was distinct from HIBM/DMRV. The other hereditary myopathy that involves RV is MFM.…”