Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Orpha code: 52430OMIM code: 615424

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

Disease data
Classification

Disease

Synonyms
IBMPFD
Dystrofia obręczowo-kończynowa z chorobą Pageta
IBMPFD
Pagetoidalne stwardnienie zanikowe boczne
Pagetoidalny zespół neuro-szkieletowy
Pagetoidalny zespół nerwowo-szkieletowy
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
ORPHA code
52430
OMIM code
615424
ICD10 code
G71.8
ICD11 code
-

No additional description.

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