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GTR Home > Conditions/Phenotypes > Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

Synonyms
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; MULTISYSTEM PROTEINOPATHY 1

Summary

Excerpted from the GeneReview: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Virginia Kimonis
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Available tests

40 tests are in the database for this condition.

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Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC48, FTDALS6, TERA, p97, VCP
    Summary: valosin containing protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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