Congenital muscular dystrophy due to LMNA mutation

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Congenital muscular dystrophy due to LMNA mutation

Synonyms: L-CMD | LMNA-related congenital muscular dystrophy

A rare congenital muscular dystrophy characterized by prominent axial hypotonia predominantly proximal muscle weakness in upper limbs and distal in lower limbs joint contractures (initially distal later proximal) spinal rigidity and progressive respiratory insufficiency in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

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Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Congenital muscular dystrophy due to LMNA mutation?

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Advocacy Organizations

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.

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

L-CMD Research Foundation

Inspired by our beautiful son Austin, this 501c3 nonprofit is dedicated to urgently translating scientific research into impactful treatments - and ultimately a cure - for L-CMD. Today we are one step closer to a tomorrow without LMNA-related congenital muscular dystrophy.

Clinical Trials

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