Pontocerebellar hypoplasia | |
---|---|
Other names | Non-syndromic pontocerebellar hypoplasia |
Pontocerebellar hypoplasia is inherited in an autosomal recessive manner | |
Specialty | Neurology |
Treatment | Unknown |
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons).[1] Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.[2]
GHR
was invoked but never defined (see the help page).