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Disease Profile
Myopathy with extrapyramidal signs
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
Childhood
ICD-10
G71.3
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)
Proximal myopathy with extrapyramidal signs
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body’s midline) and learning disabilities. The muscle weakness does not progress, but most patients develop progressive atypical involuntary muscle contractions that influence gait, movement, and posture (extrapyramidal signs) that may be disabling. Signs and symptoms are variable and include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posturing, and involuntary repetitive movements of the mouth and face.[1] Other symptoms may include uncoordinated movements (
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal basal ganglia |
0012751 | |
Central core regions in muscle fibers | 0030230 | |
Centrally nucleated skeletal muscle fibers | 0003687 | |
Chorea | 0002072 | |
Difficulty running | 0009046 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
0001332 | ||
Global |
0001263 | |
Increased variability in muscle fiber diameter | 0003557 | |
Orofacial dyskinesia | 0002310 | |
Progressive extrapyramidal movement disorder | 0007153 | |
Progressive extrapyramidal muscular rigidity | 0007158 | |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Resting tremor |
Tremor at rest
|
0002322 |
5%-29% of people have these symptoms | ||
0001251 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Mildly elevated creatine kinase | 0008180 | |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Optic atrophy | 0000648 | |
Peripheral axonal neuropathy | 0003477 | |
Drooping upper eyelid
|
0000508 | |
1%-4% of people have these symptoms | ||
Abnormality of extrapyramidal motor function | 0002071 | |
Specific learning disability | 0001328 | |
Tremor | 0001337 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
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 |
Motor delay | 0001270 |
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.
In-Depth Information
- 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.
References
- Logan CV & cols. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. February, 2014; 46(2):188-93. https://www.nature.com/ng/journal/v46/n2/full/ng.2851.html.
- Myopathy with extrapyramidal signs. OMIM. 2014; https://omim.org/entry/615673.