Congenital muscular dystrophy type 1B

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Synonyms: CMD1B | MDC1B

Congenital muscular dystrophy type 1B is a rare genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck sternomastoid facial and diaphragm muscles) spinal rigidity joint contractures (Achilles tendon elbows hands) generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels and with disease progression forced expiratory abdominal squeeze and nocturnal hypoventilation.

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 June 2024

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Congenital muscular dystrophy type 1B?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign 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 to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

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

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Clinical Trials

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