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Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

MONDO:0000507

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.

Also known as: IBMPFD, inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia, inclusion body myopathy/Paget disease/frontotemporal dementia, limb-girdle muscular dystrophy with Paget disease of bone, pagetoid amyotrophic lateral sclerosis, pagetoid neuroskeletal syndrome, inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

14 clinical trials for this condition and its sub-types.

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Sub-types

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 (2) Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (1) Inclusion body myopathy and brain white matter abnormalities (0) Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (0)

Broader categories

Dementia (698) Disease (680) Psychiatric disorder (435) Cognitive disorder (433) Nervous system disorder (231) Musculoskeletal system disorder (207) Hereditary disease (176) Neurodegenerative disease (171) Frontotemporal dementia (126) Central nervous system disorder (107)
Trials to join now! 5 Not yet recruiting 2 Not yet finished but already full! 3 Completed 3 Terminated 1
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