| Article Access Statistics | | | Viewed | 3522 | | | Printed | 99 | | | Emailed | 0 | | | PDF Downloaded | 104 | | | Comments | [Add] | | | Cited by others | 1 | | |
|
Click on image for details.
|
|
| LETTER TO EDITOR |
|
|
|
| Year : 2006 | Volume
: 54
| Issue : 4 | Page : 445 |
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea
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
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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.28130
How to cite this article:
Liewluck T. Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India 2006;54:445 |
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 | |  |
| 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.  |
| 2. | D'Angelo MG, Bresolin N. Cognitive impairment in neuromuscular disorders. Muscle Nerve 2006;34:16-33. |
| 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]. |
| 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. |
| This article has been cited by | | 1 |
Disabling myopathy with chorea and noncompaction |
|
| Josef Finsterer,Claudia Stöllberger | | International Journal of Cardiology. 2015; 181: 32 | | [Pubmed] | [DOI] | |
|
|
|
|
