/inclusion body myopathy with Paget disease of bone and frontotemporal dementia

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Rare Disease

MONDO:0000507

Also Known As

IBMPFDinclusion body myopathy with Paget's disease of bone and frontotemporal dementiainclusion body myopathy with early-onset Paget disease with or without frontotemporal dementiainclusion body myopathy/Paget disease/frontotemporal dementialimb-girdle muscular dystrophy with Paget disease of bonepagetoid amyotrophic lateral sclerosispagetoid neuroskeletal syndromeinclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Definition

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); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, 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.