[Infantile spinal muscular atrophy].
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)
Barois
A
A
Service de Réanimation Infantile, Hôpital Raymond Poincaré, Garches.
Estournet
B
B
Duval-Beaupère
G
G
Bataille
J
J
Leclair-Richard
D
D
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003389:Cranial Nerve Diseases / Q000209:etiology; D005260:Female; D006699:Home Care Services; D006801:Humans; D008176:Lung Volume Measurements; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010243:Paralysis / Q000209:etiology; D011175:Positive-Pressure Respiration; D012131:Respiratory Insufficiency / Q000209:etiology; D012600:Scoliosis / Q000209:etiology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
Amyotrophie spinale infantile.