[MIM 617 183]

Only a few families have been described. Autosomal dominant or recessive transmission of a mutation in the ATAD3A gene (1p36.33). Clinical presentation is variable and appears to be associated with some mitochondrial dysfunction with increased blood lactates level and methylglutaconic aciduria (see this term).

Clinical presentation:

-        psychomotor developmental delay, including speech difficulties

-        truncal hypotonia and spasticity of the limbs

-        peripheral axonal neuropathy with frequent amyotrophy of the lower limbs

-        optical atrophy

-        frontal bossing, small nose, micrognathia

-        sometimes: cardiomyopathy, pectus carinatum, scoliosis, deformity of the feet

Anesthetic implications:

see mitochondrial cytopathies

References :  

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Updated: February 2020