Mental retardation and microcephaly with pontine and cerebellar hypoplasia

No time? No problem. This workout program features a week’s worth of workouts, all less than 15 minutes long. Squeeze them in during your lunch break and do them almost anywhere. Equipment required: Sturdy bed or chair, Kettlebell (optional) The symptoms of MICPCH include progressive microcephaly, hypotonia, intellectual disability, possible optic atrophy, motor disabilities, brainstem/cerebellar hypoplasia (PCH), and, in forty percent of cases, epilepsy.[5][6] Development of gross motor skills, such as sitting, standing, and walking, is severely delayed, along with restricted fine motor skills. Some affected individuals can walk with assistance, but most MICPCH patients rely on wheelchairs.[5] Additional features include disrupted sleep; sensorineural hearing loss, feeding difficulties; and gastrointestinal problems, including constipation and gastroesophageal reflux. MICPCH in males may occur with or without severe epileptic encephalopathy (Ohtahara syndrome, West syndrome, or early myoclonic epilepsy) in addition to severe-to-profound developmental delay. When seizures are present, they occur early and may be intractable.[7] Prognosis is poor for males with this condition.[8] The differences in phenotype between girls and boys arise simply due to the fact that in boys there is only one X-chromosome and hence one CASK gene. This results in males with MICPCH having no functioning CASK protein present in their brains whilst females will have approximately 50% of healthy levels. Infantile/epileptic spasms appears to be a prevalent seizure type within individuals suffering from MICPCH.[9] It appears that females are more likely to have late onset epileptic spasms whilst males are prone to early onset spasms (infantile spasms).[9] Cause MICPCH is caused by pathogenic variants in the CASK gene. This gene provides instructions for making calcium/calmodulin dependent serine protein kinase (CASK), a protein that is essential for brain function. CASK, being a mult