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LETTER TO EDITOR
Year : 2006  |  Volume : 54  |  Issue : 4  |  Page : 445

Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea


Division of Neuropathology, Department of Pathology and Neurogenetics Network, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 0700, Thailand

Correspondence Address:
Teerin Liewluck
Division of Neuropathology, Department of Pathology and Neurogenetics Network, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, 0700
Thailand
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.28130

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How to cite this article:
Liewluck T. Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India 2006;54:445

How to cite this URL:
Liewluck T. Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India [serial online] 2006 [cited 2019 Nov 20];54:445. Available from: http://www.neurologyindia.com/text.asp?2006/54/4/445/28130


Sir

I read with great interest the paper written by Khadilkar and colleagues[1] presenting brother and sister with autosomal recessive limb-girdle muscular dystrophy, mental retardation and movement disorder in a form of chorea. Cognitive impairment has been reported in various types of muscular dystrophies including dystrophinopathy, alpha dystroglycanopathy and beta sarcoglycanopathy;[2] however, abnormal involuntary movement in muscular dystrophy has not been reported until recently when Takahashi and colleagues[3] described a patient with chorea and LGMD2B due to dysferlin mutation. Comparing with a case presented by Takahashi et al , patients reported by Khadilkar have earlier onset of muscle weakness and chorea and also have significant cognitive impairment. Although calf hypertrophy is uncommon in LGMD2B, the possibility of dysferlin mutation in these affected siblings cannot be excluded. It is interesting that there is a 4-kb transcript variant of dysferlin predominantly expressed in the brain tissue, especially putamen.[4] Although the role of this particular isoform remains unclear, it is likely that its alteration may play an important role in the presence of chorea in an LGMD2B patient. Due to this particular combination of muscular dystrophy and chorea, it is very important to screen dysferlin expression and mutation in both patients presented by Khadilkar.

 
 » References Top

1.Khadilkar SV, Menezes KM, SingJr RK, Hedge MR. Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India 2006;54:293-5.  Back to cited text no. 1    
2.D'Angelo MG, Bresolin N. Cognitive impairment in neuromuscular disorders. Muscle Nerve 2006;34:16-33.  Back to cited text no. 2    
3.Takahashi T, Aoki M, Imai T, Yoshioka M, Konno H, Higano S, et al . A case of dysferlinopathy presenting choreic movements. Mov Disord 2006 June 30; [Epub ahead of print].  Back to cited text no. 3    
4.Bashir R, Britton S, Strachan T, Keers S, Vafiadald E, Lako M, et al . A gene related to Caenorhabdifis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.  Back to cited text no. 4    



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