Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

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Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs joint contractures kyphosis or lordosis of the spine lateral tongue atrophy and pes equinus. Progression to upper limb involvement facial weakness language impairment intellectual disability and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation internalized nuclei fiber atrophy as well as rod structures and core targetoid defects.

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 Data version December 2023

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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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