Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

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Synonyms: Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

A rare genetic mitochondrial myopathy characterized by congenital cataract progressive muscular hypotonia that particularly affects the lower limbs reduced deep tendon reflexes sensorineural hearing loss global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I II and IV respiratory chain activity.

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 May 2024

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Advocacy Organizations

United Mitochondrial Disease Foundation (UMDF)

Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.

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Clinical Trials

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