No abstract

We reviewed the incidence and severity of scoliosis in 37 patients with the intermediate type and 26 with the mild type of spinal muscular atrophy. In the intermediate type, scoliosis has an early onset and rapid progression before puberty, and a spinal fusion will be needed in virtually all cases. This rapid progression occurred despite routine use of a spinal brace. Hip dislocation was frequently present but, in most cases, was secondary to the pelvic tilt and did not contribute to the scoliosis. In the mild type, the scoliosis was more variable. In the 30% of patients who had scoliosis, progression was rapid during puberty but only in those who had lost ambulation. Of the four children with the intermediate type and the seven with the mild type who walked in light-weight orthoses, progression of scoliosis was slow, except in those who had lost ambulation. The ultimate effect of walking in orthoses is difficult to assess because of small numbers, but it seems to slow or at least delay progressive scoliosis.

SUMMARY This is a report on the natural history of 109 patients with infantile spinal muscular atrophy (SMA). All 18 children with the severe form died, as did five of the 52 with the intermediate form. Functional ability was more or less stable in the 47 living patients with the intermediate form, but 16 of the 39 with mild SMA lost the ability to walk. Ventilatory function was severely impaired in those with intermediate SMA: orthopaedic treatment for scoliosis in this group did not prevent the curves from worsening with age. Scoliosis was also severe in patients with mild SMA who had stopped walking: surgical treatment in six cases resulted in stable correction of the spine, with functional and cosmetic improvement and without impairment of respiratory function. RÉSUMÉ Scoliose dans I'atrophie spinale infantile: histoire naturelle et prise en charge L'article rapporte l'histoire naturelle de 109 patients atteints d'atrophie musculaire spinale infantile (SMA). Tous les 18 cas d'atteinte sévère moururent ainsi que cinq sur 52 des formes intermédiates. Les capacités fonctionnelles furent plus ou moins stables chez les 47 survivants de forme intermédiaire mais la marche fut perdue pour 16 des 39 cas de forme modérée de SMA. La fonction respiratoire fut gravement atteinte dans les formes intermédiaires: le traitement orthopédique de la scoliose n'empêcha pas une aggravation des courbures avec l'âge, dans ce groupe. La scoliose fut également grave dans les formes modérées oú la marche était perdue: le traitement chirurgical dans six cas permit une correction vertébrale, avec amélioration fonctionnelle et esthétique, sans atteinte de la fonction respiratoire. ZUSAMMENFASSUNG Skoliose bei spinaler Muskelatrophie: Krankheitsverlauf und Behandlung Dies ist ein Bericht über den Krankheitsverlauf bei 109 Patienten mit spinaler Muskelatrophie (SMA). Alle 18 Kinder mit der schweren Form starben, sowie fünf von den 52 mit der mittelschweren Form. Bei den 47 lebenden Patienten mit der mittelschweren Form waren die motorischen Funktionen mehr oder weniger stabil, während 16 der 39 Kinder mit einer milden SMA nicht mehr laufen konnten. Die Atemfunktion war bei den Kindern mit der mittelschweren SMA stark beeinträchtigt: die orthopädische Behandlung der Skoliose in dieser Gruppe konnte eine Verschlechterung mit fortschreitendem Alter nicht verhindern. Die Skoliosen waren auch sehr ausgeprägt bei den Patienten mit milder SMA, die nicht mehr laufen konnten: das Ergebnis einer chirurgischen Behandlung in sechs Fällen war eine stabile Korrektur der Wirbelsäule mit funktioneller und kosmetischer Verbesserung und ohne Beeinträchtigung der Atemfunktion. RESUMEN Escoliosis en la atrofia muscular espinal: historia natural y manejo Se trata de un estudio sobre la historia natural de 109 pacientes con atrofia muscular espinal infantile (AMEI). Todos los 18 casos que sufrian la forma grave fallecieron, asi como cinco con forma intermedia. La habilidad funcional era más o menos estable en los 47 pacientes que vivian con la forma intermedi...

We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but also of extension, of the neck. The "alligator sign" was demonstrated. Progression of scoliosis and of contractures reduced the functional capacity in six patients. A restrictive ventilatory syndrome was observed in all, while central apneas with oxygen desaturation were shown in two. Cardiac arrhythmias were observed in four. We suggest that a distinction should be made between myopathic rigid spine and rigid spine syndrome. Myopathic rigid spine is a clinical sign which is rarely sought but is present in several types of well-defined myopathies, meaning the myopathic involvement of the extensor muscles of the spine. Rigid spine syndrome is an axial myopathy with peculiar clinical and radiographic signs and a characteristic natural history.

We report a case of severe cervical spinal stenosis due to ossification of the posterior longitudinal ligament (OPLL) whose clinical examination showed no symptoms or signs of neurological damage ("silent OPLL"). Questions about the diagnosis and the treatment of silent OPLL are discussed in the light of published data.