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Disease Profile

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 52430

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.

Visit the Orphanet disease page for more resources.

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 dementia
0002145
Hip pain
0030838
Osteolysis
Breakdown of bone
0002797
Short stature
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
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
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
Intellectual disability
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 pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Autosomal dominant inheritance
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
Dystonia
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

Organizations

Support 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 more

    These 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

    • MedlinePlus Genetics contains information on Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. This website is maintained by the National Library of Medicine.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia. Click on the link to view a sample search on this topic.

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