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Disease Profile

Pontocerebellar hypoplasia type 2

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

Infancy

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ICD-10

Q04.3

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)

Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy; PCH2

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1]

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
5%-29% of people have these symptoms
Cerebral atrophy
Degeneration of cerebrum
0002059
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Death in childhood
0003819
Simplified gyral pattern
0009879
Ventriculomegaly
0002119
Percent of people who have these symptoms is not available through HPO
Abnormality of the periventricular white matter
0002518
Autosomal recessive inheritance
0000007
Babinski sign
0003487
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebellar hemisphere hypoplasia
0100307
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Cerebellar vermis hypoplasia
0001320
Chorea
0002072
Clonus
0002169
Congenital onset
Symptoms present at birth
0003577
Dystonia
0001332
Extrapyramidal dyskinesia
0007308
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Feeding difficulties in infancy
0008872
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Gliosis
0002171
Hypoplasia of the brainstem
Small brainstem
Underdeveloped brainstem

[ more ]

0002365
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplasia of the pons
0012110
Impaired smooth pursuit
0007772
Limb hypertonia
Increased muscle tone of arm or leg
0002509
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Opisthotonus
0002179
Poor suck
Poor sucking
0002033
Progressive microcephaly
Progressively abnormally small cranium
Progressively abnormally small skull

[ more ]

0000253
Restlessness
0000711
Seizure
0001250
Severe global developmental delay
0011344
Sloping forehead
Inclined forehead
Receding forehead

[ more ]

0000340
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505

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

    • Genetics Home Reference (GHR) contains information on Pontocerebellar hypoplasia type 2. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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. 
        Pontocerebellar hypoplasia type 2A
        Pontocerebellar hypoplasia type 2B
        Pontocerebellar hypoplasia type 2C
      • 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 Pontocerebellar hypoplasia type 2. Click on the link to view a sample search on this topic.

        References

        1. Yasmin Namavar, MSc, Veerle RC Eggens, MSc, Peter G Barth, MD, PhD, and Frank Baas, MD, PhD. TSEN54-Related Pontocerebellar Hypoplasia. GeneReviews. October 2013; https://www.ncbi.nlm.nih.gov/books/NBK9673/.
        2. Pontocerebellar hypoplasia. Genetics Home Reference. November 2014; https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia.
        3. Pontocerebellar hypoplasia type 2. Orphanet. July 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524.