Type 0 Spinal Muscular Atrophy in rare association with congenital Contracture and generalized osteopenia

Spinal muscular atrophy (SMAs) is a group of rare autosomal recessive diseases in which there is degeneration of alpha motor neurons in the spinal cord leading to progressive distal motor weakness. Here we report a case of type 0 SMA in a female neonate born at the Department of Pediatrics, PGIMS, R...

Descripción completa

Detalles Bibliográficos
Autores principales: SINGH, Aditi, DALAL, Poonam, SINGH, Jasbir, TRIPATHI, Pooja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760681/
https://www.ncbi.nlm.nih.gov/pubmed/29379570
Descripción
Sumario:Spinal muscular atrophy (SMAs) is a group of rare autosomal recessive diseases in which there is degeneration of alpha motor neurons in the spinal cord leading to progressive distal motor weakness. Here we report a case of type 0 SMA in a female neonate born at the Department of Pediatrics, PGIMS, Rohtak (Haryana) India, associated with generalized osteopenia and bony deformity in form of unilateral club foot. It may be emphasized that diagnosis of SMA should be kept in mind as a differential in cases of unexplained severe generalized hypotonia and severe respiratory compromise immediately after birth.

Ejemplares similares