Scoliosis in Spinal Muscular Atrophy: Natural History and Management

Abstract

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...

Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich)

“…In general, patients with neuromuscular scoliosis are likely to experience a deterioration of their pulmonary function despite scoliosis surgery. 21 Comparable results have been reported with both arthroscopic and open methods for correction of post-traumatic diminished elbow extension. 23,24 However, there is no specific experience in surgical correction of elbow flexion contractures secondary to muscular dystrophy.…”

“…Our suggestion, therefore, is to follow the rules that apply to a condition with a similar range of clinical severity, namely, the intermediate-mild form of spinal muscular atrophy (SMA2-3). 21 Because the scoliosis develops from early infancy, when the chest wall is normally very compliant, in UCMD and SMA2 the distortion of the thorax tends to be very severe and causes severe impairment of lung growth. Bracing is not a definitive method of preventing progression in SMA, but it may be used for improving trunk support or seating comfort.…”

“…Bracing is not a definitive method of preventing progression in SMA, but it may be used for improving trunk support or seating comfort. 21,22 Braces may also cause further pulmonary restriction, however, and may interfere with feeding, especially gastrostomy tube feeding. In early childhood, satisfactory results were not observed after telescope rod implantation.…”

Avaliação dos resultados do tratamento cirúrgico da escoliose na atrofia muscular espinhal tipo 2

“…É a doença neuromuscular fatal mais comum da infância e o terceiro diagnóstico de doença neuromuscular mais freqüente em crianças abaixo dos 18 anos [1][2][3] . Conforme a época do início das manifestações clínicas doença e a gravidade do comprometimento motor, a AME é classificada por Byers e Baker em três formas: 4,5 A infantil aguda (doença de Werdnig-Hoffmann aguda ou atrofia muscular espinhal tipo I) é diagnosticada nos primeiros meses de vida.…”

“…A AME apresenta herança autossômica recessiva de distribuição quase igual entre os sexos, com leve predominância no sexo masculino 1 . Mais de 98% dos casos são causados por mutações na porção telomérica do gene SMN, sendo a análise deste de grande valor para o diagnóstico 2 . A escoliose é a principal manifestação ortopédica da doença, a sua prevalência e magnitude estão diretamente relacionadas a capacidade de deambulação e a gravidade da doença.…”