Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

Common Name(s)

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia

IBMPFD is an autosomal dominant disorder characterized by incomplete penetrance of 3 main features: disabling muscle weakness (in 90%), osteolytic bone lesions consistent with Paget disease (in 51%), and frontotemporal dementia (in 32%). {17:Weihl et al. (2009)} presented a detailed review of the disorder. Importantly, muscle weakness is an isolated symptom in about 30% of patients, and is the presenting symptom in greater than half of patients, suggesting that IBMPFD may be commonly seen in a neuromuscular clinic without its other syndromic features. Genetic Heterogeneity of IBMPFD IBMPFD2 ({615422}) is caused by mutation in the HNRNPA2B1 gene ({600124}) on chromosome 7p15. IBMPFD3 ({615424}) is caused by mutation in the HNRNPA1 gene ({164017}) on chromosome 12q13.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Inclusion body myopathy with early-onset paget disease and frontotemporal dementia" for support, advocacy or research.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
 

Status: Recruiting

Condition Summary: Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia; Paget Disease of Bone; Frontotemporal Dementia; Myopathy

 

Last Updated: 12 May 2011

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