Proximal spinal muscular atrophy type 1

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Proximal spinal muscular atrophy type 1

Synonyms: Infantile spinal muscular atrophy | Infantile-onset spinal muscular atrophy | SMA type 1 | SMA type I | SMA-I | SMA1 | Werdnig-Hoffmann disease

A rare genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of severe and progressive muscle weakness in the first 6 months of life and presenting with severe generalized hypotonia and weakness,. Dysphagia and respiratory impairment may also be present at presentation or appear at a later stage. Classically before the advent of recent therapies type 1 patients never achieved sitting without support.

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 February 2024

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Proximal spinal muscular atrophy type 1?

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Advocacy Organizations

All India Institute of Medical Sciences ( AIIMS), New Delhi, India

Trinity of Care:Academic and Clinical

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.

Fighting for Kaiden Foundation

The Fighting for Kaiden Foundation is a non-profit organization committed to enhancing the lives of those struggling with Spinal Muscular Atrophy (SMA) on multiple fronts. Directly, we strive to raise awareness of the disease on the local, regional and national levels. Our foundation provides need-based financial support to affected families for equipment and travel. We understand the value of peer support and organize support groups and information for SMA affected families in our area. We provide directed donations for medical research in addition to medical equipment and services for SMA patients across the country. Our goals are driven by our devotion to improving the lives and finding a cure for those with SMA.

Clinical Trials

For a list of clinical trials in this disease area, please click here.