Table 5. [Treatment of Manifestations in Individuals with TSEN54 Pontocerebellar Hypoplasia Type 2]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Seizures	Per standard practice	By neurologist experienced in epilepsy management
Irritability	None	Often 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
Orthopedics	Manage contractures, clubfoot, & scoliosis w/bracing &/or surgical intervention.
Feeding/ Dysphagia	Gastroenterology / nutrition / feeding team	Modify food consistency to ↓ aspiration risk &/or consider NG feeding & gastrostomy.
Speech	Speech/language eval	Consider involving speech therapist & OT to improve communication skills.
Respiratory	Manage pulmonary complications; treatment of respiratory infections	Per treating pulmonologist
Neurodevelopmental	Early intervention / individual education program based on needs	See Developmental Delay / Intellectual Disability Management Issues.

Manifestation/Concern

Treatment

Considerations/Other

Seizures

Per standard practice

By neurologist experienced in epilepsy management

Irritability

None

Often 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

Orthopedics

Manage contractures, clubfoot, & scoliosis w/bracing &/or surgical intervention.

Feeding/
Dysphagia

Gastroenterology / nutrition / feeding team

Modify food consistency to ↓ aspiration risk &/or consider NG feeding & gastrostomy.

Speech

Speech/language eval

Consider involving speech therapist & OT to improve communication skills.

Respiratory

Manage pulmonary complications; treatment of respiratory infections

Per treating pulmonologist

Neurodevelopmental

Early intervention / individual education program based on needs

See Developmental Delay / Intellectual Disability Management Issues.

From: TSEN54 Pontocerebellar Hypoplasia

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