Adenylosuccinate synthetase-like 1-related distal myopathy

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Adenylosuccinate synthetase-like 1-related distal myopathy?

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Advocacy Organizations


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

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

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