title: Autosomal dominant distal spinal muscular atrophy in four generations.
abstract: Distal spinal muscular atrophy is a rare lower motor neuron disorder that may be difficult to distinguish clinically from type II Charcot-Marie-Tooth disease. We report on clinical and pathologic findings in 13 members of a four-generation extended family with autosomal dominant distal spinal muscular atrophy. The patients developed a slowly progressive lower motor neuron disorder involving mainly the distal lower extremities; onset was from the second to fourth decades. Electromyography and muscle biopsy findings were indicative of motor denervation. Combined silver/cholinesterase/immunocytochemical staining of intramuscular nerve revealed abundant collateral axonal branching in mild disease but marked loss of terminal motor endplate innervation in the more severe state, suggesting decreased growth of motor axon collaterals with disease progression. Multipoint DNA linkage analysis showed that this family's disorder is not linked to the chromosome 5q11.2-13.3 spinal muscular atrophy locus.
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: K B
authors.initials: KB
authors.lastname: Boylan
authors.forename: D R
authors.initials: DR
authors.lastname: Cornblath
authors.forename: J D
authors.initials: JD
authors.lastname: Glass
authors.forename: K
authors.initials: K
authors.lastname: Alderson
authors.forename: R W
authors.initials: RW
authors.lastname: Kuncl
authors.forename: P W
authors.initials: PW
authors.lastname: Kleyn
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000503:physiopathology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009420:Nervous System / Q000473:pathology; D009424:Nervous System Physiological Phenomena; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree