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A case of GNE myopathy mimicking hereditary motor neuropathy
Author(s) -
Huang Y.N.,
Chuang H.J.,
Hsueh H.W.,
Huang H.C.,
Lee N.C.,
Chao C.C.,
Huang P.H.,
Lee Y.C.,
Lin K.P.,
Yang C.C.,
Hsieh S.T.
Publication year - 2020
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.14489
Subject(s) - medicine , muscle biopsy , myopathy , weakness , hyporeflexia , clonus , muscle weakness , magnetic resonance imaging , pathology , anatomy , biopsy , radiology , psychiatry , epilepsy
A 36‐year‐old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ultrasound revealed increased homogeneous echogenicity in the involved muscles, which is characteristic of myopathic changes. Muscle magnetic resonance imaging revealed fatty infiltration in all limb muscles, sparing the triceps brachii, vastus lateralis and vastus medialis. Muscle biopsy revealed intracytoplasmic rimmed vacuole, supporting the diagnosis of GNE myopathy.