Table 4.

Recommended Evaluations Following Initial Diagnosis of TSEN54 Pontocerebellar Hypoplasia Type 2

Constitutional Measure length, weight.See Gastrointestinal/Feeding recommendations if there is evidence of failure to thrive.
Gastroenterology / nutrition / feeding team evalAssess swallowing & feeding to determine safety of oral vs gastrostomy feeding.
Respiratory Assess airway & pulmonary function & secretion management.Consult pulmonologist.
Neurologic Eval by pediatric neurologistAssess for evidence of severe generalized clonus; chorea, spasticity; seizures; impaired central vision.
Musculoskeletal Multidisciplinary neuromuscular clinic assessment by orthopedist, physical medicine, OT/PTTo incl assessment of:
  • Contractures, clubfoot, & kyphoscoliosis
  • Need for positioning devices
Palliative care Refer to palliative care specialist.When deemed appropriate by family & care providers
By genetics professionals 1To inform affected individuals & their families re nature, MOI, & implications of TSEN54-PCH2 to facilitate medical & personal decision making
Family support/

MOI = mode of inheritance; OT = occupational therapist; PT = physical therapist


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: TSEN54 Pontocerebellar Hypoplasia

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