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 2026
Newly diagnosed with
Autosomal dominant congenital benign spinal muscular atrophy?
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Advocacy Organizations
Association Aux Pas du Coeur – Côte d’ivoire
Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign 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 to be able to make a final diagnosis and ensure continuous monitoring of patients easily.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Friends of Be an Angel
"Friends of Be an Angel" is a humanitarian non-profit organization that provides aid and evacuation assistance to vulnerable people in Ukraine. The organization focuses on providing essential supplies, performing medical evacuations with the focus of children with rare diseases, and offering mental health support, particularly for children affected by the war.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
SMA Philippines Organization Inc.
Driven by the belief that no one gets left behind, we are dedicated to enhancing the lives of individuals affected with spinal muscular atrophy (SMA) through advocacy, education, and support. Our goal is to raise awareness, improve access to essential care and resources, advocate for equitable treatment opportunities, and champion the rights of individuals with SMA.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.