Autosomal recessive lower motor neuron disease with childhood onset
Synonyms: Autosomal recessive distal spinal muscular atrophy type 4 | Distal spinal muscular atrophy type 4 | dSMA4
A rare genetic neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures severe scoliosis hyperlordosis and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal recessive lower motor neuron disease with childhood onset?
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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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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