Title: Type I Spinal Muscular Atrophy (Werdnig-Hoffman Disease) – A Rare Neurodegenerative Disorder in Infancy
Authors: Parveen Bhardwaj, Champa Panwar, Neeraj Sharma
DOI: https://dx.doi.org/10.18535/jmscr/v7i6.14
Abstract
Childhood spinal muscular atrophy is an autosomal recessive neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord. SMA type I or Werdnig-Hoffmann disease (WHD), the most severe form can be detected in utero or during the first months of life. Death typically occurs within the first 2 years of life. A 6-month old male was admitted to the emergency room for severe respiratory distress. He had generalised hypotonia, symmetrical proximal muscle weakness, areflexia, intercostal muscle weakness and tongue fasciculations. Molecular analysis reported homozygous deletion of exons 7 of I. It is imperative to recognize and diagnose this entity in order to provide genetic counselling to the family as well as to offer support and advice in the care of the patient.
Keywords: Autosomal recessive, degenerative disorder, areflexia, fasciculations, genetic conselling.
References
- Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specifi c disease. Neuron 2005; 48:885-896.
- Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990; 344:767-768.
- Oskoui, M.; Levy, G.; Garland, C. J.; Gray, J. M.; O'Hagen, J.; De Vivo, D. C.; Kaufmann, P. : The changing natural history of spinal muscular atrophy type 1. Neurology 2007; 69: 1931-1936.
- Dubowitz V. Muscle Disorders of Childhood. Philadelphia Saunders; 1978. pp. 146-190.
- Thomas, N. H.; Dubowitz, V: The natural history of type I (severe) spinal muscular atrophy. Neuromusc. Disord. 2007; 4: 497-502, 1994.
- Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, et al. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. J Med Genet 1996; 33:281-283.
- Scheffer H, Cobben JM, Matthijs G, Wirth B.:Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet 2001; 9:484-49.
- Wirth, B.; Rudnik-Schoneborn, S.; Hahnen, E.; Rohrig, D.; Zerres, K.: Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. Prenatal Diag. 1995; 15: 407-417.
- Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008; 371:2120-2133
- Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al.: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80:155-165.