Profiles of neuromuscular diseases. Spinal muscular atrophy.

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

Research output: Contribution to journalArticle

Abstract

Forty-five individuals with spinal muscular atrophy (SMA) types II and III were evaluated prospectively over a 10-yr period to develop an impairment and disability profile. SMA II subjects showed marked weakness and progressive decline of strength. Mean manual muscle test (MMT) score for all muscles combined was 2.3 +/- 0.6, with a decline in strength of -0.24 MMT units per decade. SMA III individuals had a relatively static or very slowly progressive course and were far stronger. Mean MMT score for all muscles combined was 3.8 +/- 0.7, and the decline in strength per decade was not significant. In both types proximal weakness was greater than distal, but there was greater involvement of the lower extremities and the extensor muscle groups only in SMA II. Contractures, progressive scoliosis, and restrictive lung disease (RLD) were present in most of the SMA II individuals, but these complications were rare in SMA III. Maximal expiratory pressures were affected earlier and to a greater degree than vital capacity. Seventy-eight percent of those with SMA II had scoliosis with a mean Cobb angle of the primary curve of 62 +/- 37 degrees. Forty-one percent had severe RLD, and 17% had moderate RLD. In both types, 63% had abnormal electrocardiograms although most had minor findings. Timed motor performance and functional evaluations indicated that muscle weakness translated to substantial disability in both SMA II and III, with more severe impairment noted in SMA II. Neither type was associated with abnormal means scores on intellectual and neuropsychologic test batteries.

Original languageEnglish (US)
JournalAmerican journal of physical medicine & rehabilitation / Association of Academic Physiatrists
Volume74
Issue number5 Suppl
StatePublished - Sep 1995

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Spinal Muscular Atrophy
Neuromuscular Diseases
Muscles
Lung Diseases
Scoliosis
Spinal Muscular Atrophies of Childhood
Neuropsychological Tests
Muscle Weakness
Vital Capacity
Contracture
Lower Extremity
Electrocardiography

ASJC Scopus subject areas

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

Cite this

Profiles of neuromuscular diseases. Spinal muscular atrophy. / Carter, G. T.; Abresch, R. T.; Fowler, W. M.; Johnson, E. R.; Kilmer, D. D.; McDonald, Craig M.

In: American journal of physical medicine & rehabilitation / Association of Academic Physiatrists, Vol. 74, No. 5 Suppl, 09.1995.

Research output: Contribution to journalArticle

Carter, G. T. ; Abresch, R. T. ; Fowler, W. M. ; Johnson, E. R. ; Kilmer, D. D. ; McDonald, Craig M. / Profiles of neuromuscular diseases. Spinal muscular atrophy. In: American journal of physical medicine & rehabilitation / Association of Academic Physiatrists. 1995 ; Vol. 74, No. 5 Suppl.
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