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 April 2026
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Spinal muscular atrophy with respiratory distress type 1?
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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.
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.