Clinical Signs and Symptoms
ORPHA:52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Distal muscle weakness HP:0002460
- EMG: myopathic abnormalities HP:0003458
- Elevated serum creatine kinase HP:0003236
- Hyperlordosis HP:0003307
- Increased variability in muscle fiber diameter HP:0003557
- Proximal muscle weakness HP:0003701
- Rimmed vacuoles HP:0003805
- Ubiquitin-positive cerebral inclusion bodies HP:0012083
- Waddling gait HP:0002515
Very frequent
- Abnormality of the vertebral column HP:0000925
- Brain atrophy HP:0012444
- Elevated alkaline phosphatase HP:0003155
- Frontotemporal dementia HP:0002145
- Hip pain HP:0030838
- Osteolysis HP:0002797
- Short stature HP:0004322
Frequent
- Abnormal motor neuron morphology HP:0002450
- Abnormality of calvarial morphology HP:0002648
- Abnormality of long bone morphology HP:0011314
- Amyotrophic lateral sclerosis HP:0007354
- Aphasia HP:0002381
- Calvarial hyperostosis HP:0004490
- Cardiomyopathy HP:0001638
- Cataract HP:0000518
- Congestive heart failure HP:0001635
- Cranial nerve compression HP:0001293
- Dyscalculia HP:0002442
- EMG: chronic denervation signs HP:0003444
- EMG: neuropathic changes HP:0003445
- Fasciculations HP:0002380
- Fatty replacement of skeletal muscle HP:0012548
- Generalized amyotrophy HP:0003700
- Hepatic steatosis HP:0001397
- Increased susceptibility to fractures HP:0002659
- Intellectual disability HP:0001249
- Language impairment HP:0002463
- Motor axonal neuropathy HP:0007002
- Mutism HP:0002300
- Sensory axonal neuropathy HP:0003390
- Upper motor neuron dysfunction HP:0002493
- Urinary bladder sphincter dysfunction HP:0002839
- Weakness of muscles of respiration HP:0004347
Occasional
- Pathologic fracture HP:0002756
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.