Leigh Syndrome (SURF1)

Leigh syndrome is an autosomal recessive disorder caused by variants in several genes, including SURF1. The onset of this condition is in infancy or childhood, and the disorder is progressive and severe neurodegenerative disorder, which may result in early death. Symptoms include hypotonia, difficulty swallowing, spasticity, seizures, nystagmus, and/or ophthalmoplegia. Some individuals develop hypertrophic cardiomyopathy. In rare instances recessive variants in SURF1 may cause Charcot-Marie-Tooth disease, type 4K (CMT4K) which is characterized by progressive neuropathy and distal muscle weakness. Individuals have a “drop step” gait, paresthesias, and reduced sensation. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):