Spinal muscular atrophy with progressive myoclonic epilepsy - rare case report from India

Authors

  • Tuhina Nagpal Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India
  • Kamlesh Agrawal Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India
  • Ashok Gupta Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India
  • Priyanshu Mathur Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20210134

Keywords:

Spinal muscular atrophy, Progressive myoclonic epilepsy, ASAH1 gene

Abstract

Spinal muscular atrophy with progressive myoclonic epilepsy is a rare genetic disorder characterized by progressive muscular weakness and myoclonic seizures. Herein we report an Indian boy with myoclonic seizures followed by progressive weakness of both lower limbs and detected with heterozygous mutation in N-acylsphingosine amidohydrolase 1 (ASAH1) gene causing spinal muscular atrophy with progressive myoclonic epilepsy.

Author Biography

Tuhina Nagpal, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India

DEPT OF Paediatrics,3rd year resident

References

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Gan JJ, Garcia V, Tian J, Tagliati M, Parisi JE, Chung JM, et al. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscul Disord. 2015;25:959-63.

Yildiz EP, Yesil G, Bektas G, Caliskan M, Tatli B, Aydinli N, et al. Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1. Clin Neurol Neurosurg. 2017;164:47-9.

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Badv RS, Nilipour Y, Dehgolan SR, Nezhad AR, Akbari MG. A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran. Int Med Case Rep J. 2019;12:155-9.

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Published

2021-01-22

Issue

Section

Case Reports