inclusion body myopathy with Paget disease of bone and frontotemporal dementia
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.
MONDO:0019708
obsolete primary bone dysplasia with disorganized development of skeletal components (obsolete MONDO:0019708)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016112
hereditary inclusion-body myopathy
is_a
MONDO:0017276
frontotemporal dementia
is_a
IBMPFD
exact
inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
related
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia
exact
inclusion body myopathy/Paget disease/frontotemporal dementia
exact
limb-girdle muscular dystrophy with Paget disease of bone
exact
pagetoid amyotrophic lateral sclerosis
exact
pagetoid neuroskeletal syndrome
exact
SPAC1565.08