GTR Home > Conditions/Phenotypes > Pontocerebellar hypoplasia type 4

Disease characteristics

Excerpted from the GeneReview: TSEN54-Related Pontocerebellar Hypoplasia
TSEN54-related pontocerebellar hypoplasia (PCH) includes three PCH types (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three types (which differ mainly in life expectancy) were thought to be distinct entities before their molecular basis was known. Children with PCH2 usually succumb before age ten years, whereas those with PCH4 and 5 usually succumb as neonates. Children with PCH2 have generalized clonus, incoordination of sucking and swallowing, impaired motor and cognitive development with lack of voluntary motor development, central visual impairment, and an increased risk for malignant hyperthermia. Epilepsy is present in approximately 50%. Neonates with PCH4 often have seizures, multiple joint contractures (''arthrogryposis''), generalized clonus, and central respiratory impairment. PCH5, which resembles PCH4, has been described in one family.

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Associated genes

Clinical features

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  • Microcephaly
  • Hypoplasia of the brainstem
  • Loss of Purkinje cells in the cerebellar vermis
  • Infantile encephalopathy
  • Seizure
  • Spasticity
  • Cerebellar hypoplasia
  • Myoclonus
  • Polyhydramnios
  • Abnormality of metabolism/homeostasis
  • Gliosis
  • Congenital contracture
  • Pontocerebellar hypoplasia
  • Severe global developmental delay
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