Title: Werdnig-Hoffmann Disease in A Female Child: A Rare Case Report
Authors: Dr Tapan Kumar Biswas, Dr Sunil Kumar Agarwalla, Dr Shantanu Kumar Meher, Dr Subhranshu Sekhar Dhal
DOI: http://dx.doi.org/10.18535/jmscr/v4i9.47
Abstract
Spinal muscular atrophies (SMAs) are rare degenerative diseases that affect motor neuron. It is inherited as autosomal recessive disorder and mainly affect male baby but female may be affected. Disease can occurs all age groups but more severe form of the disease generally involved paediatric age group. Most severe infantile form also known as type 1 SMA or Werdnig- Hoffmann disease usually presented before the age of 6 months with generalisedhypotonia with recurrent respiratory tract infection. Definite diagnosis is by genetic study and treatment is generally supportive and prognosis is poor. Here we present such rare disease in a female child.
Keywords: spinal muscular atrophy, hypotonia, Werdnig – Hoffmann disease.
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