Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature
| Autor: | Biplab Das, Manoj Kumar Goyal, Sanat Ramchandra Bhatkar, Pulikottil Wilson Vinny, Manish Modi, Vivek Lal, N Gayathri, Anitha Mahadevan, Bishan Dass Radotra |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 119-122 (2016) |
| Druh dokumentu: | article |
| ISSN: | 0972-2327 1998-3549 |
| DOI: | 10.4103/0972-2327.167709 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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