Clinical and genetic study of chronic (types II and III) childhood onset spinal muscular atrophy.
Neuromuscul Disord
; 6(6): 419-24, 1996 Dec.
Article
en En
| MEDLINE
| ID: mdl-9027849
ABSTRACT
We have conducted a retrospective study of 63 patients affected by chronic forms of spinal muscular atrophy (SMA) to better document the natural history of this disease. Thirty-nine patients had type II and 24 type III SMA. These patients had manual muscle testing (MMT) and forced vital capacity (FVC) studies done every six to 12 months over follow up period ranging from six to 140 months. A decline in FVC was seen in both types of SMA but there was no significant change in MMT in either group. Genetic studies were also done in a subset of 17 families (23 patients) included in this study. Homozygous deletions in the telomeric survival motor neuron (SMN) and the neuronal apoptosis inhibitory protein (NAIP) genes were observed in 100% and 11.8% of the patients tested respectively.
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Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
2_ODS3
/
6_ODS3_enfermedades_notrasmisibles
/
7_ODS3_muertes_prevenibles_nacidos_ninos
Problema de salud:
2_muertes_prevenibles
/
6_congenital_chromosomal_anomalies
/
6_musculoskeletal_diseases_rheumatic_disorders
/
7_non_communicable_diseases
Asunto principal:
Atrofias Musculares Espinales de la Infancia
/
Capacidad Vital
/
Debilidad Muscular
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
1996
Tipo del documento:
Article
País de afiliación:
Canadá