Rare Pulmonology News

Disease Profile

Childhood-onset neurodegeneration with brain atrophy

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.

Unknown

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

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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.

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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)

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
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Hyperintensity of cerebral white matter on MRI
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
Dystonia
0001332
EEG abnormality
0002353
Gait ataxia
Inability to coordinate movements when walking
0002066
Global developmental delay
0001263
Inability to walk
0002540
Intellectual disability, profound
IQ less than 20
0002187
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Seizure
0001250
Spasticity
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 corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Impaired pain sensation
Decreased pain sensation
0007328
Impulsivity
Impulsive
0100710
Infantile muscular hypotonia
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
Autosomal dominant inheritance
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.