Low back pain as a presenting symptom in GNE myopathy
Neurology Asia
;
: 399-401, 2020.
Article
in English
| WPRIM
| ID: wpr-877276
ABSTRACT
@#GNE myopathy is a rare autosomal recessive early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscles and commonly spares the quadriceps femoris muscles. It is caused by biallelic mutations in GNE gene encoding for a single protein with key enzymatic activities in sialic acid biosynthetic pathway. However, diagnosing GNE myopathy can be challenging due to its phenotypic variability. This is the report of a 35-year-old man with GNE myopathy who presented with a low back pain for four years. A lumbar magnetic resonance imaging showed atrophy of lumbar paraspinal muscles. GNE myopathy was confirmed by genetic analysis. This case is unique and broaden the early clinical spectrum of GNE myopathy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
English
Journal:
Neurology Asia
Year:
2020
Type:
Article
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