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

The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [ghr.nlm.nih.gov]

• Epilepsy

  […] neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 PCH2D 613811 SEPSECS 4p15.2 Progressive cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [en.wikipedia.org]

  Severe chorea occurs, and epilepsy is frequent, while signs of spinal anterior horn involvement are absent in PCH type 2. The main feature distinguishing PCH type 1 from PCH type 2 is that anterior horn cells are spared in PCH type 2. [rarediseases.org]

• Poor Feeding

  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]

• Respiratory Insufficiency

  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]

• Reduced Fetal Movement

  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]

• Dystonia

  Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. [ghr.nlm.nih.gov]

  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]

• Ataxia

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

• Nystagmus

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

• Cerebellar Sign

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

Standard Therapies Treatment The treatment of PCH is entirely symptomatic and supportive. The primary physician should serve as a medical home coordinating the care of this chronically ill child. [rarediseases.org]

Another gene that has been associated with this condition is coenzyme A synthase (COASY).[14] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]

Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996;38(7):684-7. Barth PG, Blennow G, Lenard HG, et al. [rarediseases.org]

Gastrostomy tube may be required for feeding; fundoplication may be needed to prevent aspiration. [rarediseases.org]