X-linked scapuloperoneal syndrome.
Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus. Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy developed in adult life. Investigations favoured a myopathic basis. The inheritance was of X-linked recessive pattern and the disorder was linked with deutan colour blindness. The clinical features in this family appear to be distinctive and it is likely that the disorder represents a separate clinical entity.
D000293:Adolescent; D000328:Adult; D001132:Arm / Q000503:physiopathology; D002319:Cardiovascular System / Q000503:physiopathology; D002648:Child; D003025:Clubfoot; D003117:Color Vision Defects / Q000235:genetics; D003286:Contracture; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007866:Leg / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D013194:Staining and Labeling