Table 5.

Treatment of Manifestations in Individuals with TSEN54 Pontocerebellar Hypoplasia Type 2

Seizures Per standard practiceBy neurologist experienced in epilepsy management
Irritability NoneOften related to chorea (involuntary movements)
Musculoskeletal Multidisciplinary neuromuscular clinic physical medicine, OT/PT
  • Maximize gross motor & fine motor skills through PT/OT & use of adaptive devices.
  • Alternative casting/splinting & stretching
OrthopedicsManage contractures, clubfoot, & scoliosis w/bracing &/or surgical intervention.
Gastroenterology / nutrition / feeding teamModify food consistency to ↓ aspiration risk &/or consider NG feeding & gastrostomy.
Speech Speech/language evalConsider involving speech therapist & OT to improve communication skills.
Respiratory Manage pulmonary complications; treatment of respiratory infectionsPer treating pulmonologist
Neurodevelopmental Early intervention / individual education program based on needsSee Developmental Delay / Intellectual Disability Management Issues.

NG = nasogastric, OT = occupational therapy, PT = physical therapy

From: TSEN54 Pontocerebellar Hypoplasia

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