Key result
Hereditary inclusion body myopathy frequently faces delayed diagnosis until wheelchair dependency despite characteristic quadriceps sparing.
Why the study?
Hereditary inclusion body myopathy (HIBM) is underrecognized clinically despite its characteristic topography of weakness and frequent misdiagnosis.
Case Report (n=7)
No
Supports consideration of hereditary inclusion body myopathy in quadriceps-sparing weakness to avoid diagnostic delay; leaves open validation in larger South Asian cohorts.
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.
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Das et al. (2015) conducted a case report in Hereditary inclusion body myopathy (HIBM) (n=7). Hereditary inclusion body myopathy was evaluated on Clinical characteristics and diagnosis. Seven patients from North India with hereditary inclusion body myopathy presented with progressive muscle weakness and characteristic quadriceps sparing, with six being misdiagnosed until wheelchair-bound.
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