delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 PCH2D 613811 SEPSECS 4p15.2 Progressive cerebello-cerebral atrophy (PCCA) PCH2E [en.wikipedia.org]

The clinical findings, the severity of movement disorder and the developmental delay do not correlate with the degree of pontine or cerebellar hypoplasia on MRI. [rarediseases.org]

Pontocerebellar Hypoplasia Type 6 (PCH type 6): PCH type 6 manifests as early as the first day of life or within the first month of life as infantile encephalopathy, with generalized hypotonia, lethargic, poor sucking and poor feeding. [rarediseases.org]

The comprehensive care involves the services of a multidisciplinary team that may include the pediatrician, pediatric neurologist, pediatric surgeon, speech pathologist, ophthalmologist, physical therapist, occupational therapist and other specialist [rarediseases.org]

insufficiency, muscle atrophy, progressive microcephaly and global developmental delay[6] PCH2A 277470 TSEN54 17q25.1 Dyskinetic movements, seizures (frequently) Volendam neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 [en.wikipedia.org]

In most cases, the condition is obvious during the newborn period when the newborn appears floppy and has respiratory insufficiency. At birth, multiple congenital contractures of large joints (arthrogryposis multiplex congenita) may be present. [rarediseases.org]

Other features include brachycephaly, prominent eyes, and low-set ears. There was no extrapyramidal involvement or dyskinesia. Imaging studies of the brain showed small brainstem, small cerebellar vermis, and atrophy of the cerebellum and cerebrum. [rarediseases.org]

It has also been found that some patients with PCH type 1 develop the signs of muscle weakness or developmental delay at the age of several months. These late presenting patients have a milder form and may live up to four years. [rarediseases.org]

PCH type 1 is associated with reduced fetal movement. The pregnancy sometimes is complicated by polyhydramnios. In most cases, the condition is obvious during the newborn period when the newborn appears floppy and has respiratory insufficiency. [rarediseases.org]

Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]

All affected children develop marked extrapyramidal dyskinetic movement disorder with predominance of dystonia. Jerky movements and almost continuous dystonic choreoathetotic movements may be seen. [rarediseases.org]

Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]

Intellectual disability and cerebellar signs of visual impairment, nystagmus and ataxia follow the initial presentation. [rarediseases.org]