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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Proximal spinal muscular atrophy type 1?
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Miracle For Madison & Friends
Raise awareness for SMA , provide support to families and fund research for a treatment/cure
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.
Funding research into rare pediatric diseases
All India Institute of Medical Sciences ( AIIMS), New Delhi, India
Trinity of Care:Academic and Clinical
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.
For a list of clinical trials in this disease area, please click here.