Muscle filaminopathy

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Muscle filaminopathy

Synonyms: FLNC-associated myofibrillar myopathy | Filamin C-related filaminopathy | MFM5

Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive proximal skeletal muscle weakness which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs a waddling gait marked winging of scapula lower back pain paresis of limb girdle musculature hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks tachycardia diastolic dysfunction left ventricular hypertrophy) have been reported in some cases.

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 November 2023

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Muscle filaminopathy?

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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.

Clinical Trials

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