Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

ABSTRACT:

Objective

To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.

Methods

This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation.

Results

All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. Three patients had congenital contractures. All patients died during their first year of life. In 2 of our patients, electrophysiologic testing showed abnormal decrement, but treatment with pyridostigmine led only to tem

SUBMITTER: Schorling DC 

PROVIDER: S-EPMC5562963 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature