Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

The phenotypic spectrum associated with autosomal dominant SPTAN1 variants has evolved since the initial 2008 description of infantile epileptic encephalopathy due to non-truncating mutations. Loss of function variants were reported in association with a central nervous system phenotype without epilepsy in 2018, and with a juvenile onset hereditary motor neuropathy in 2019. Here we report novel SPTAN1 variants in two patients seen in our clinic. The first presented at 9 years old with a history of mild motor and cognitive delays, dysmorphic features and abnormal gait.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Meyer, W. Arnold, M. Waldrop, K. Flanigan Source Type: research