title: Distal myopathy with rimmed vacuoles and cerebellar atrophy.
abstract: Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25. The progression was slow, but after 16 years he became seriously disabled. Neurological examination showed moderate to severe weakness in distal muscles of all extremities, marked cerebellar sign and steppage gait. Muscle biopsy resulted in myopathic changes with rimmed vacuoles. Brain MRI scan showed cerebellar atrophy. This case demonstrates a rare association of distal myopathy and cerebellar atrophy.
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Pécs, Pécs, H-7623, Hungary.
authors.forename: Hajnalka
authors.initials: H
authors.lastname: Merkli
authors.forename: Endre
authors.initials: E
authors.lastname: Pál
authors.forename: István
authors.initials: I
authors.lastname: Gáti
authors.forename: József
authors.initials: J
authors.lastname: Czopf
mesh_terms: D001284:Atrophy; D001706:Biopsy; D002526:Cerebellar Diseases / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D018450:Disease Progression; D049310:Distal Myopathies / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D014617:Vacuoles / Q000473:pathology*