Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

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Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Synonyms: Congenital muscular dystrophy, Davignon-Chauveau type

A rare congenital muscular dystrophy characterized by neonatal hypotonia life-threatening respiratory failure and feeding difficulties furthermore by delayed motor development severe muscle weakness predominantly affecting axial muscles (leading to poor head control rigid cervical spine and severe scoliosis) generalized joint laxity with no or mild contractures as well as dry skin with follicular hyperkeratosis. Serum creatine kinase is normal or slightly elevated. Muscle biopsy shows fiber size variability rounded fibers with mild increase of endomysial connective tissue and adipose replacement abundant minicore lesions increase of centrally located nuclei angular fibers and cap lesions.

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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Advocacy Organizations

Girls Chronically Rock

Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and

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

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