Childhood-onset neurodegeneration with brain atrophy

Title

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Other Names:

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder; CONDBA

Symptoms 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.

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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

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Last updated: 2/1/2021

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Diagnosis 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 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.

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