Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonyms: IBMPFD | Limb-girdle muscular dystrophy with Paget disease of bone | Pagetoid amyotrophic lateral sclerosis | Pagetoid neuroskeletal syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term) manifesting with bone pain deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term) manifesting first with dysnomia dyscalculia and comprehension deficits followed by progressive aphasia alexia and agraphia. As the disease progresses muscle weakness begins to affect the other limbs and respiratory muscles ultimately resulting in respiratory or cardiac failure.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia?

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Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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