Werdnig-Hoffmann Disease in A Female Child: A Rare Case Report

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

References

Corresponding Author

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.

References

1. Katirji B, Kaminski HJ, Preston DC. Spinal muscular atrophies. Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE, eds. Neuromuscular Disorders in Clinical Practice. Boston: Butterworth-Heinemann; 2002. 445-53.

2. Bradley WG, Daroff RB, Fenichel GM, Jankovic J, eds. Neurology in Clinical Practice. 2nd ed. Boston: Butterworth-Heinemann; 1996. 1829-43.

3. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5. 344(6266):540-1. [Medline].

4. Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci. 1980 Mar. 45(2-3):337-48. [Medline].

5. Burlet P, Burglen L, Clermont O, et al. Large scale deletions of the 5q13 region are specific to Werdnig- Hoffmann disease. J Med Genet. 1996 Apr. 33(4):281-3. [Medline].

6. Burglen L, Lefebvre S, Clermont O, et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomicx. 1996. 32:479-482.

7. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008 Jun 21. 371(9630):2120-33. [Medline].

8. Emery AE. The nosology of the spinal muscular atrophies. J Med Genet. 1971 Dec. 8(4):481-95. [Medline].

9. Pearn J. Classification of spinal muscular atrophies. Lancet. 1980 Apr 26. 1(8174): 919-22. [Medline].

10. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992. 2(5-6):423-8. [Medline].

11. Harding AE. Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. 3rd ed. Philadel-phia: WB Saunders; 1993. 1051-64.

12. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002 Jul 15. 110(4):301-7. [Medline].

13. Awater C, Zerres K, Rudnik-Schöneborn S. Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J ObstetGynecolReprod Biol. 2012 Jun. 162(2):153-9. [Medline].

14. Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Szirkowiec W. Chronic proxymal spinal muscular atrophy of childhood and adolescence: sex influence. J Med Genet. 1984 Dec. 21(6):447-50. [Medline].

15. Walton JN. The limp child. J Neurol Neurosurg Psychiatry. 1957 May. 20(2): 144-54. [Medline].

16. Rudnik-Schoneborn S, Forkert R, Hahnen E, et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuroped-iatrics. 1996 Feb. 27(1):8-15. [Medline].

17. Fenichel GM. Clinical Pediatric Neuro-logy. 3rd ed. WB Saunders: Philadelphia; 1997. 151-74.

18. Joynt R, Griggs R. Clinical Neurology. Philadelphia: Lippincott; 1997 Vol 4:11-5.

19. Roy N, Mahavedan MS, McLean M, Shutler G, Yaraghi Z, Farahani R et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 1995;80:167-78.

20. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80: 155-65.

21. Crawford TO, and Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996;3:97-110

Call For Paper Volume 12 Issue 10 November 2024

The JMSCR is accepting manuscripts for its coming issues to be Publish Volume 12 Issue 11 November 2024 the JMSCR invites authors to submit manuscripts Reporting original medical research, original article, research article, case report, systematic reviews, or educational Innovations for publication for the coming issues that will be released in Volume 12 Issue 11 November 2024. Types of manuscripts suitable for JMSCR include: Medical research, Clinical research Educational Innovation, Brief Report, Reviews on Teaching In keeping with high quality scholarship, Read More.....

https://jmscr.igmpublication.org/ems/index.php/jmscr/about/submissions

If any difficulty you can also submit to: This email address is being protected from spambots. You need JavaScript enabled to view it.

JMSCR Menu

Impact Factor SJIF 2024: 7.892

https://sjifactor.com/passport.php?id=1725

Crossref - DOI

Crossref - DOI Prefix: 10.18535/jmscr

Editorial Policy

Authors should prepare their manuscripts according to the instructions given in the authors' guidelines. Manuscripts which do not ..

Frequency of Publication

JMSCR is published as monthly journal with 12 issues per year. Special editions are also planned subjected to the scope and need....

Submission of Articles

Authors are invited to submit their research articles, review papers, Case Report properly formatted as per the author guidelines.........

Search

Abstract