Web2 days ago · Anna Dunn, 40, was told by doctors that her then four-month-old boy Bonham had Pontocerebellar Hypoplasia type 2A, ... is being supported by her colleagues, ...
Exome sequencing in a family with intellectual disability, early …
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). Where known, these disorders are … See more There are different signs and symptoms for different forms of pontocerebellar hypoplasia, at least six of which have been described by researchers. All forms involve abnormal development of the brain, leading to … See more Pontocerebellar hypoplasia is caused by mutations in genes including VRK1 (PCH1); TSEN2, TSEN34 (PCH2); RARS2 (PCH6); and TSEN54 (PCH2 and PCH4). The genes associated with PCH3 and PCH5 have not yet been identified. The mutated genes … See more The severity of different forms of PCH varies, but many children inheriting the mutated gene responsible do not survive infancy or childhood; nevertheless, some individuals born with PCH have reached adulthood. See more Mutations in the genes that cause PCH produce faults in the production of chemicals, usually enzymes, that are required for the development of nerve cells (neurons) and for properly processing RNA, which is needed for any cell to function normally. The exact … See more • Mental retardation and microcephaly with pontine and cerebellar hypoplasia See more WebPontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the … gacha list
Organizations: Are there good support groups for Pontocerebellar ...
WebApr 10, 2024 · Bonham, who recently turned five, was diagnosed as a baby with a rare and life-limiting genetic disorder that requires a full range of support from his family. Anna … WebThis group is for family and caregivers of individuals with Ponto Cerebellar Hypoplasia (all types). Please use this group to share concerns, stories, milestones, pictures and videos; … WebBaraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 … gacha living room