You are using an outdated browser. Please upgrade your browser to improve your experience.

distal myopathy with posterior leg and anterior hand involvement

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
Uniprot Description A slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.
Mondo Term and Equivalent IDs
MONDO:0013550:  distal myopathy with posterior leg and anterior hand involvement
Orphanet:63273: 
SCTID:733489002: 
UMLS:C3279722: 
UMLS:C4518807: