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Disease Profile
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Adult
ICD-10
G71.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Limb-girdle muscular dystrophy with Paget disease of bone;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Orpha Number: 52430
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
EMG: myopathic abnormalities | 0003458 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Increased variability in muscle fiber diameter | 0003557 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Rimmed vacuoles | 0003805 | |
Ubiquitin-positive cerebral inclusion bodies | 0012083 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
30%-79% of people have these symptoms | ||
Brain atrophy |
Brain degeneration
Brain wasting
[ more ] |
0012444 |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Frontotemporal |
0002145 | |
Hip pain | 0030838 | |
Osteolysis |
Breakdown of bone
|
0002797 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abnormality of calvarial morphology |
Abnormality of the shape of cranium
Abnormally shaped skull
[ more ] |
0002648 |
Abnormality of long bone morphology |
Abnormal shape of long bone
|
0011314 |
Amyotrophic lateral sclerosis | 0007354 | |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Calvarial hyperostosis |
Overgrowth of skullcap
|
0004490 |
Disease of the heart muscle
|
0001638 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Cranial nerve compression | 0001293 | |
Dyscalculia | 0002442 | |
EMG: chronic denervation signs | 0003444 | |
Facial palsy |
Bell's palsy
|
0010628 |
Fasciculations |
Muscle twitch
|
0002380 |
Fatty replacement of skeletal muscle | 0012548 | |
Generalized amyotrophy |
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] |
0003700 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Language impairment | 0002463 | |
Motor axonal neuropathy | 0007002 | |
Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
Sensory axonal neuropathy | 0003390 | |
Upper motor neuron dysfunction | 0002493 | |
Urinary bladder sphincter dysfunction | 0002839 | |
Weakness of muscles of respiration | 0004347 | |
1%-4% of people have these symptoms | ||
Pathologic fracture |
Spontaneous fracture
|
0002756 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
0000006 | ||
Back pain | 0003418 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Dysphasia | 0002357 | |
0001332 | ||
Elevated alkaline phosphatase of bone origin |
Increased serum bone-specific alkaline phosphatase
|
0010639 |
Frontal cortical atrophy | 0006913 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Myopathy |
Muscle tissue disease
|
0003198 |
Pelvic girdle amyotrophy | 0008946 | |
Pelvic girdle muscle atrophy | 0008988 | |
Pelvic girdle muscle weakness | 0003749 | |
Scapular winging |
Winged shoulder blade
|
0003691 |
Shoulder girdle muscle atrophy |
Shoulder girdle muscle wasting
Shoulder-girdle muscle atrophy
[ more ] |
0003724 |
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
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