Table 4. [Treatment of Manifestations in Individuals with Pelizaeus-Merzbacher-Like Disease 1]. - GeneReviews®

Manifestation	Treatment	Considerations/Other
Developmental delay & cognitive dysfunction	Accommodations in special classroom setting or w/aide	Recommendations from pediatric neurologist may be necessary to achieve maximum intellectual & functional abilities.
Spasticity	Oral GABA agonists (e.g., baclofen, diazepam)	For more focal spasticity, consider intramuscular injection of botulinum toxin.
Physical therapy
Use of equipment such as walker & wheelchair
Dystonia	When associated w/spasticity, mgmt of dystonia w/baclofen or intramuscular botulinum toxin; trihexyphenidyl or tetrabenazine potentially helpful	In many cases, dystonia is refractory to medical mgmt.
Scoliosis & joint dislocation	Mgmt or surgical intervention by orthopedist
Swallowing dysfunction	Consider swallowing eval & feeding therapy	Affected individuals are at risk of aspiration.
Nutrition plan & possible supportive feeding device to avoid malnutrition
Dysarthria	Consider speech therapy to improve communication abilities	Augmentative communication approaches are often necessary.
Seizures	Standard antiepileptic drug therapy
Hearing loss	Standard approaches to hearing loss incl augmentative communication approaches; no evidence exists for cochlear implants in this context	See Hereditary Hearing Loss and Deafness Overview.
Optic atrophy	Supportive approaches for the vision-impaired individual

Manifestation

Treatment

Considerations/Other

Developmental
delay & cognitive
dysfunction

Accommodations in special classroom setting or w/aide

Recommendations from pediatric neurologist may be necessary to achieve maximum intellectual & functional abilities.

Spasticity

Oral GABA agonists (e.g., baclofen, diazepam)

For more focal spasticity, consider intramuscular injection of botulinum toxin.

Physical therapy

Use of equipment such as walker & wheelchair

Dystonia

When associated w/spasticity, mgmt of dystonia w/baclofen or intramuscular botulinum toxin;
trihexyphenidyl or tetrabenazine potentially helpful

In many cases, dystonia is refractory to medical mgmt.

Scoliosis &
joint dislocation

Mgmt or surgical intervention by orthopedist

Swallowing
dysfunction

Consider swallowing eval & feeding therapy

Affected individuals are at risk of aspiration.

Nutrition plan & possible supportive feeding device to avoid malnutrition

Dysarthria

Consider speech therapy to improve communication abilities

Augmentative communication approaches are often necessary.

Seizures

Standard antiepileptic drug therapy

Hearing loss

Standard approaches to hearing loss incl augmentative communication approaches; no evidence exists for cochlear implants in this context

See Hereditary Hearing Loss and Deafness Overview.

Optic atrophy

Supportive approaches for the vision-impaired individual

From: Pelizaeus-Merzbacher-Like Disease 1

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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