Hereditary motor and sensory neuropathy, types I and II

G. T. Carter, R. T. Abresch, W. M. Fowler, E. R. Johnson, D. D. Kilmer, Craig M McDonald

Research output: Contribution to journalArticle

74 Scopus citations

Abstract

Data were collected prospectively for an impairment and disability profile for 86 hereditary motor and sensory neuropathy, types I and II (HMSN) subjects over a 10-yr period. Our data confirm that HMSN is a slowly progressive disorder that has a very heterogeneous phenotypical expression. The disorder was characterized primarily by diffuse muscle weakness with prominent distal atrophy. The mean manual muscle test (MMT) strength grade for all muscle groups combined was 3.9 ± 0.7 MMT units. There was a slowly progressive decline in strength, only -0.15 MMT units per decade. Distal muscle groups were weaker than proximal muscles, and the decline in strength of the ankle muscles was greater than for the proximal muscles. There was no side dominance. Anthropometric data revealed that distal atrophy may be masked by subcutaneous fat in female subjects. On average, HMSN subjects produced 20-40% less force than normal controls, using quantitative isometric and isokinetic strength measures, even when MMT scores were normal. Pulmonary and cardiac abnormalities were uncommon, as were spine deformity and joint contractures. Only 1 individual had severe restrictive lung disease, and 12 (14%) had a history of significant respiratory complications with no age or disease duration effect. As with the other neuromuscular diseases, maximum expiratory pressure was more affected than forced vital capacity. Fourteen individuals (30%) had abnormal electrocardiograms, and six (7%) had a history of significant cardiovascular complications with no age or disease duration effect. Kyphosis was the major spine deformity. Cardiopulmonary responses to exercise testing were markedly abnormal, showing reduced aerobic capacity. Functional evaluations and timed motor performance tests showed only mild disability in most individuals. With timed motor performance testing muscle weakness translated to impaired motor performance skills. Overall, mean scores on intellectual function and neuropsychologic profiles were normal.

Original languageEnglish (US)
JournalAmerican Journal of Physical Medicine and Rehabilitation
Volume74
Issue number5 SUPPL.
StatePublished - 1995

Keywords

  • Charcot- Marie-Tooth Disease
  • Disability
  • Hereditary Motor and Sensory Neuropathy
  • Impairment
  • Neuromascular Disease

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Rehabilitation
  • Health Professions(all)
  • Physical Therapy, Sports Therapy and Rehabilitation

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    Carter, G. T., Abresch, R. T., Fowler, W. M., Johnson, E. R., Kilmer, D. D., & McDonald, C. M. (1995). Hereditary motor and sensory neuropathy, types I and II. American Journal of Physical Medicine and Rehabilitation, 74(5 SUPPL.).