| Sarcoglycanopathy: Clinical and histochemical characteristics in 66 patients. | |
| | |
MedLine Citation:
|
PMID: 21045489 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Background: Sarcoglycanopathies are a group or autosomal recessive muscular dystrophies designated as α, β, γ, or δ sarcogycanopathy. Materials and Methods: It is a retrospective analysis of case series. Results: Sixty six patients immunohistochemically confirmed to have sarcoglycan deficiency were included in the analysis. The study period extended from 1997-2008. The male to female ratio was 1.5:1. Mean age at the onset of muscle complaints was 6.2±3.7 years (range 1-18). Mean age at evaluation was 10.0±4.8 years (range 3-31). Mean duration of illness was 47.02±44.80 months (range 3-325). Onset in the first decade was seen in 59 (89.4%) and 25 (42.4%) of these had onset before five years of age. The remaining seven (10.6%) had onset in second decade and none after 20 years of age. Consanguinity was present in 54 (81.8%). In 34 of 66 cases only a-SG was carried out and this had shown total absence of staining in all fibers. In the remaining 32 cases where the entire panel was performed, absence of all sarcoglycans was noted in 10 (15.1%), isolated α-SG deficiency in 7 (10.6%), isolated β-SG deficiency in 6 (9.1%), and isolated γ-SG deficiency in 3 (4.5%). Combination deficiency was also observed: absence of α and β (n=4), β and γ (n=2), and α and γ (n=1). Conclusions: Our series was a large series and with predominantly pediatric age group. Sarcoglycanopathy should be particularly suspected in a child born to consanguineous parents and who presents with proximal muscle weakness and calf hypertrophy, elevated CK level, and myopathic pattern on EMG. |
| | |
Authors:
|
A Nalini; N Gayathri; Fazil Thaha; Sarala Das; S Shylashree |
Related Documents
:
|
10725529 - The age of onset of schizophrenia and the theory of anticipation. 17288649 - Young males have a higher risk of developing schizophrenia: a danish register study. 9229029 - Is the earlier age at onset of schizophrenia in males a confounded finding? results fro... 12417389 - Mri subcortical hyperintensities in old and very old depressed outpatients: the importa... 8970459 - Basal ganglia volume and proximity to onset in presymptomatic huntington disease. 18427999 - Association study on glutathione s-transferase omega 1 and 2 and familial als. 7386449 - Epidemiology of life events: frequency in general populations. 18819719 - Biomarkers by gender. 10772599 - Brain morphological changes and early marijuana use: a magnetic resonance and positron ... |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Neurology India Volume: 58 ISSN: 0028-3886 ISO Abbreviation: Neurol India Publication Date: 2010 Sep-Oct |
Date Detail:
|
Created Date: 2010-11-03 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0042005 Medline TA: Neurol India Country: India |
Other Details:
|
Languages: eng Pagination: 691-6 Citation Subset: IM |
Affiliation:
|
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A new method to classify pathologic grades of astrocytomas based on magnetic resonance imaging appea...
Next Document: Quality of life in stroke patients.