Adenylosuccinate synthetase-like 1-related distal myopathy
Synonyms: ADSSL1-related distal myopathy
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood followed by predominantly distal muscle weakness in adolescence and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation increased internal nuclei fiber splitting rimmed vacuoles and focal endomysial fibrosis.
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
Adenylosuccinate synthetase-like 1-related distal myopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
We are the first and only patient advocacy support group worldwide for this condition. Our mission is to find a cure for Distal Myopathy - 5 (MPD5), a rare neuromuscular disease caused by a mutation in the ADSSL1/ADSS1 gene
Cure Rare Disease
Developing a novel drug development framework to allow for the creation of treatments for rare and ultra-rare genetic neuromuscular conditions.
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.