[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].
We reported a 52-year-old woman with oculopharyngeal muscular dystrophy (OPMD) harboring expanded (GCG) 13 mutation of the poly (A) binding protein 2 gene. She presented not only ptosis and dysphagia but distal dominant muscle atrophy in four extremities. CT demonstrated distal muscle atrophy with marked fat replacement in the biceps femoris, semitendinosus, membraneous, soleus, and gastrocnemius muscles. Although OPMD is considered to be a muscle disease, this patient showed even neurogenic features in the electrophysiological and pathological findings. Although previous reports indicate that OPMD is genetically homogeneous disease, some cases with OPMD may show some atypical features associated with neurogenic involvement.
Nakashima
Dainari
D
First Department of Internal Medicine, Osaka Medical College.
Nakajima
Hideto
H
Ishida
Shimon
S
Sugino
Masakazu
M
Kimura
Fumiharu
F
Hanafusa
Toshiaki
T
D004576:Electromyography; D005260:Female; D006801:Humans; D008875:Middle Aged; D009133:Muscular Atrophy / Q000150:complications* / Q000503:physiopathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
D039103:Poly(A)-Binding Protein II