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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pontocerebellar hypoplasia type 1


Other Names for this Disease

  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
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Symptoms

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What are the symptoms of pontocerebellar hypoplasia type 1?

Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation.[1]
Last updated: 4/16/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Aplasia/Hypoplasia of the cerebellum 90%
Cerebral cortical atrophy 90%
Hypertonia 90%
Limitation of joint mobility 90%
Microcephaly 90%
Seizures 90%
Deviation of finger 50%
Abnormality of the foot -
Ataxia -
Autosomal recessive inheritance -
Basal ganglia gliosis -
Cerebellar hypoplasia -
Congenital contracture -
Congenital onset -
Degeneration of anterior horn cells -
EMG: neuropathic changes -
Fasciculations -
Feeding difficulties in infancy -
Hyperreflexia -
Hypoplasia of the pons -
Hypoplasia of the ventral pons -
Intellectual disability -
Muscle weakness -
Muscular hypotonia -
Neuronal loss in basal ganglia -
Progressive disorder -
Respiratory insufficiency -
Spinal muscular atrophy -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Omar S, Ajibola A. Pontocerebellar Hypoplasia. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pontocerebellar%20Hypoplasia. Accessed 4/16/2010.


Other Names for this Disease
  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.