NDLI: Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature

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Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature

Content Provider	Scilit
Author	Goyal, Manoj Kumar Das, Biplab Vinny, Pulikottil Wilson Modi, Manish Lal, Vivek Gayathri, N. Mahadevan, Anitha Radotra, Bishan Dass Bhatkar, Sanat Ramchandra
Copyright Year	2016
Abstract	Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of HIBM from four families in North India. Methods and Results: Seven patients from four different families were diagnosed to have HIBM. There was no consanguinity in any of the families. While one patient had two affected siblings, another had one affected siblings and the family history was noncontributory in two patients. Two of the siblings were available for examination and confirmed clinically to be suffering from HIBM. Among the seven patients, only one was still ambulatory at the time of diagnosis. Discussion: This is the first case report of occurrence of HIBM in North Indian population. Despite its unique clinical presentation, HIBM is frequently misdiagnosed resulting in unnecessary diagnostic and therapeutic interventions. A high index of suspicion of this rare myopathy along with proper clinical examination may go a long way in accurate prognostication and management of these patients.
Related Links	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782528/pdf
File Format	XHTML
ISSN	09722327
e-ISSN	19983549
DOI	10.4103/0972-2327.167709
Journal	Annals of Indian Academy of Neurology
Issue Number	1
Volume Number	19
Language	English
Publisher	Medknow
Access Restriction	Open
Subject Keyword	Medical Laboratory Technology Hereditary Inclusion Body Myopathy (hibm) Myopathy Rimmed Vacuoles Sialic Acid Annals of Indian Academy of Neurology, Volume 19, Issue 1
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical)

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