Rare Rheumatology News
Advertisement
Disease Profile
Childhood-onset neurodegeneration with brain atrophy
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder; CONDBA
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 | ||
| Abnormal pyramidal sign | 0007256 | |
| Abnormality of extrapyramidal motor function | 0002071 | |
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
|
Difficulty articulating speech
|
0001260 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| Hyperintensity of cerebral white matter on |
0030890 | |
| 30%-79% of people have these symptoms | ||
| Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
| Dysphasia | 0002357 | |
| 0001332 | ||
| 0002353 | ||
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Global |
0001263 | |
| Inability to walk | 0002540 | |
|
IQ less than 20
|
0002187 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| 0001250 | ||
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| 5%-29% of people have these symptoms | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| Autistic behavior | 0000729 | |
| Chorea | 0002072 | |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Impaired pain sensation |
Decreased pain sensation
|
0007328 |
| Impulsivity |
Impulsive
|
0100710 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Ventriculomegaly | 0002119 | |
| 1%-4% of people have these symptoms | ||
| Ataxia | 0001251 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Axonal loss | 0003447 | |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
| Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
| Parkinsonism | 0001300 | |
| Peripheral demyelination | 0011096 | |
| Rigidity |
Muscle rigidity
|
0002063 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.