Autosomal dominant congenital benign spinal muscular atrophy
Synonyms: Autosomal dominant benign distal spinal muscular atrophy | Congenital benign spinal muscular atrophy with contractures | Congenital nonprogressive spinal muscular atrophy
A rare distal hereditary motor neuropathy with a variable clinical phenotype typically characterized by congenital non-progressive predominantly distal lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip knee and ankle joints. Reduced or absent lower limb deep tendon reflexes skeletal anomalies (bilateral talipes equinovarus scoliosis kyphoscoliosis lumbar hyperlordisis) late ambulation waddling gait joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Autosomal dominant congenital benign spinal muscular atrophy?
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