Spinal muscular atrophy with respiratory distress type 1

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Spinal muscular atrophy with respiratory distress type 1

Synonyms: Autosomal recessive distal spinal muscular atrophy type 1 | Autosomal recessive spinal muscular atrophy with respiratory distress | Diaphragmatic spinal muscular atrophy | Distal hereditary motor neuropathy type 6 | Distal-HMN type 6 | SIANRF | SMARD1 | Severe infantile axonal neuropathy with respiratory failure type 1 | dHMN6 | dSMA1

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy as well as progressive symmetrical distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation low birth weight feeble cry weak suck and failure to thrive and present with inspiratory stridor recurrent episodes of dyspnea or apnea cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis foot deformities and joint contractures are frequently associated features.

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 September 2023.

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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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