Autosomal dominant congenital benign spinal muscular atrophy

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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 December 2023

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Autosomal dominant congenital benign spinal muscular atrophy?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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