Study of Rare Cases of Congenital Myasthenic Syndrome in Bangladesh

Authors

  • Akter Banu Assistant Professor, Department Of Pediatrics, Rangpur Medical College, Rangpur, Bangladesh
  • Md Mahfuzer Rahman Professor, Department Of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Mahfuj Ul Anwar Assistant Professor, Department Of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Raihan Ahmed Indoor Medical Officer, Department of Medicine, Rangpur Medical College Hospital, Rangpur, Bangladesh
  • Md Abul Kalam Azad Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Jahangir Kabir Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Anis Ahmed Assistant professor, Department of Neurology, BSMMU, Dhaka, Bangladesh
  • Devendranath Sarkar Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Shah Md Sarwer Jahan Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • MA Ohab Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Shafiul Alam Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Ashraful Haque Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • AKM Shaheduzzaman Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Mokhlesur Rahman Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Shariful Islam Mondol Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Kamruzzaman Sarkar Associate Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Helal Miah Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Rahenur Mondol Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Golam Rabbani Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Prosanto Kumar Pondit Assistant Professor, Department of Neurology, Rangpur Medical College, Rangpur, Bangladesh
  • Narayan Chandro Sarkar Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Ruhul Amin Sarkar Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Abul Kalam Azad Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Md Al Fatah Al Adiluzzaman Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Priobrata Karmakar Assistant Professor, Department of Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • Probal Sutradhar Specialist (Medicine), Haragach 31 Beded Hospital, Rangpur, Bangladesh
  • Md Abdullah Al Mamoon Indoor Medical Officer, Department of Medicine, Rangpur Medical College Hospital, Rangpur, Bangladesh
  • Firoz Mondol Registrar, Resident, Internal Medicine, Rangpur Medical College, Rangpur, Bangladesh
  • ASM Shafiujjaman Registrar, Medicine, Rangpur Medical College, Rangpur, Bangladesh

DOI:

https://doi.org/10.3329/bjn.v35i2.57636

Keywords:

Progressive fatigability, Repetitive Nerve stimulation, Auto-antibodies, Congenital Myasthenic Syndrome

Abstract

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of rare inherited diseases in which the neuromuscular transmission in the motor plate is compromised by one or more genetic pathophysiological specific mechanisms are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. The diagnosis of CMS is based on clinical findings, a decremental EMG response of the compound muscle action potential (CMAP) on low-frequency (2- 3 Hz) stimulation, absence of anti-acetylcholine receptor (AChR) and anti-MuSK antibodies in the serum, a positive response to acetylcholinesterase (AchE) inhibitors and lack of improvement of clinical symptoms with immunosuppressive therapy. Pathogenic variants in one of multiple genes encoding proteins expressed at the neuromuscular junction are currently known to be associated with subtypes of CMS. The most commonly associated genes include: CHAT, CHRNE, COLQ, DOK7, GFPT1 and RAPSN. We studied on a sibling presented with progressive fatigability and fluctuating ptosis with frequent exacerbations of muscle weakness during infections since infancy. On both cases CT scan of chest were negative for thymoma, antibodies against the acetylcholine receptor (AChR) and the muscle specific kinase (MuSK) were negative and decremental response on electrophysiological study of Repetitive nerve stimulation (RNS) and EMG were consistent with disease of neuromuscular junction (post synaptic) and they were only on pyridostigmine for long time with marked improvement of symptoms and signs. Considering all scenario both of our cases mostly fits with the autosomal recessive, post synaptic CMS associated with Rapsyn deficiency.

Objective : As in Bangladesh, there is inadequate data on the epidemiological profile of CMS, our aim is to describe these cases for their rarity and the difficulty encountered in diagnosis as they are easily confused with Juvenile Myasthenia Gravis (JMG) and familial myopathies. As both the cases are very rare, it should be an original article.

Bangladesh Journal of Neuroscience 2019; Vol. 35 (2): 95-103

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Published

2019-07-31

How to Cite

Banu, A. ., Rahman, M. M. ., Anwar, M. M. U. ., Ahmed, R. ., Kalam Azad, M. A. ., Kabir, J. ., Ahmed, A. ., Sarkar, D. ., Jahan, S. M. S. ., Ohab, M. ., Alam, S. ., Haque, M. A. ., Shaheduzzaman, A. ., Rahman, M. M. ., Mondol, S. I. ., Sarkar, M. K. ., Miah, M. H. ., Mondol, R. ., Rabbani, M. G. ., Pondit, P. K. ., Sarkar, N. C. ., Sarkar, M. R. A. ., Azad , A. K. ., Adiluzzaman, M. A. F. A. ., Karmakar, P. ., Sutradhar, P. ., Mamoon, M. A. A. ., Mondol, F. ., & Shafiujjaman, A. . (2019). Study of Rare Cases of Congenital Myasthenic Syndrome in Bangladesh. Bangladesh Journal of Neuroscience, 35(2), 95–103. https://doi.org/10.3329/bjn.v35i2.57636

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Section

Original Articles