[Infantile spinal muscular atrophy]

Rev Neurol (Paris). 1989;145(4):299-304.
[Article in French]

Abstract

The authors report 100 cases with prolonged spinal muscular atrophy (SMA) and survival beyond 4 years old. There were 46 boys and 54 girls. 23 of them had histories with an autosomal recessive form of inheritance. One case had a dominant form. The unity of cases described as Werdnig Hoffman disease [SMA I, SMA II (Childhood), ans SMA III (Kugelberg Welander)] is supported and our cases fell in three groups according to their ambulatory capabilities: never acquired, lost, or retained. 71 cases have never walked: the onset of symptoms was noted at an average age of 6.4 months +/- 3; the average age at the last examination was 16 years (4-39). Death occurred in 6 cases. Loss of walking occurred in 24 cases: the onset of symptoms was noted at an average age of 17.4 months +/- 14.2. 5 cases were still ambulatory: the onset of symptoms was noted at an average age of 2.4 years +/- 2.8. For these last 29 cases the average age at the last examination was 20 years (4-38); death occurred in two cases. The weakness was symmetrical and proximal. The period of worsening varied but, frequently, patients with a later onset of symptoms had a longer period of deterioration. Tongue fasciculations were present in all cases who never walked. Facial and masseter weakness occurred in 3 cases. Oesophagus dyskinesia and distension of the stomach due to brain stem lesions occurred in many cases. This brain stem damage was responsible of 2 sudden deaths (8-30 years). Premature puberty occurred in 14 cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • English Abstract

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cranial Nerve Diseases / etiology
  • Female
  • Home Care Services
  • Humans
  • Lung Volume Measurements
  • Male
  • Muscular Atrophy, Spinal* / complications
  • Muscular Atrophy, Spinal* / diagnosis
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Paralysis / etiology
  • Positive-Pressure Respiration
  • Respiratory Insufficiency / etiology
  • Scoliosis / etiology
  • Spinal Muscular Atrophies of Childhood* / complications
  • Spinal Muscular Atrophies of Childhood* / diagnosis
  • Spinal Muscular Atrophies of Childhood* / genetics
  • Spinal Muscular Atrophies of Childhood* / therapy