title: Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Biplab
authors.initials: B
authors.lastname: Das
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Manoj Kumar
authors.initials: MK
authors.lastname: Goyal
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Sanat Ramchandra
authors.initials: SR
authors.lastname: Bhatkar
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Pulikottil Wilson
authors.initials: PW
authors.lastname: Vinny
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Manish
authors.initials: M
authors.lastname: Modi
authors.affiliation: Department of Neurology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Vivek
authors.initials: V
authors.lastname: Lal
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, Karnataka, India.
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neuro Sciences, Bangalore, Karnataka, India.
authors.forename: Anitha
authors.initials: A
authors.lastname: Mahadevan
authors.affiliation: Department of Hisopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Bishan Dass
authors.initials: BD
authors.lastname: Radotra
keywords: Hereditary inclusion body myopathy (HIBM); myopathy; rimmed vacuoles; sialic acid