Abstract
Polyglucosan body disease (PBD) is a slowly progressive adult-onset glycogen storage disorder that typically affects upper and lower neurons. Myopathy, as a complication of PBD has been reported rarely and clinically manifests as chronic limb-girdle muscle weakness. We report an unusual case of PBD myopathy presenting as an asymmetric motor syndrome that clinically overlapped with amyotrophic lateral sclerosis, further expanding the phenotype of this disorder.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Amyotrophic Lateral Sclerosis / diagnosis
-
Diagnosis, Differential
-
Female
-
Glucans / metabolism
-
Glycogen / metabolism
-
Glycogen Storage Disease / complications
-
Glycogen Storage Disease / pathology*
-
Glycogen Storage Disease / physiopathology*
-
Humans
-
Microscopy, Electron, Transmission
-
Middle Aged
-
Muscle Fibers, Skeletal / metabolism
-
Muscle Fibers, Skeletal / pathology
-
Muscle Weakness / etiology
-
Muscle Weakness / physiopathology
-
Muscle, Skeletal / metabolism
-
Muscle, Skeletal / pathology*
-
Muscle, Skeletal / physiopathology*
-
Muscular Diseases / etiology
-
Muscular Diseases / pathology*
-
Muscular Diseases / physiopathology*
-
Reflex, Abnormal / physiology
Substances
-
Glucans
-
Glycogen
-
polyglucosan