Phenotypes associated with the disease inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (OMIM:615422):
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. (PMID:11891683)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 2/2. (PMID:23455423)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:11891683)
- Frontotemporal dementia (HP:0002145): A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. Evidence: PCS. (PMID:11891683)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 5/5. (PMID:23455423)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. (PMID:11891683)
- Muscle fiber atrophy (HP:0100295). Evidence: PCS. (PMID:23455423)
- Pagetic bone lesion (HP:0034159): Paget's disease of bone (PDB) is a chronic progressive metabolic bone disease characterized by abnormal activation of osteoclasts that results in abnormal bone resorption and compensatory osteogenic sclerosis. DB can affect one (monostotic form) or more (polyostotic form) regions of the skeleton, with multiple constitutive symptoms, including bone pain, bone deformity, pathological fracture, tinnitus, hearing loss, vision loss, and osteoarthritis. Evidence: PCS. Frequency: 5/5. (PMID:23455423)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: PCS. Frequency: 1/5. (PMID:23455423)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. Frequency: 2/5. (PMID:23455423)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: PCS. (PMID:11891683)
- Rimmed vacuoles (HP:0003805): Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. Evidence: PCS. Frequency: 2/2. (PMID:23455423)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. (PMID:23455423)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:23455423)