Organ System | Evaluation | Comment |
|---|
Eyes | Ophthalmology | Assessment for optic atrophy nystagmus |
ENT | Audiology | Assessment for sensorineural hearing loss |
Gastrointestinal | Consultation w/gastroenterologist | Consideration of swallowing study to assess for swallowing dysfunction mgmt of constipation gastroesophageal reflux |
Musculoskeletal | Referral to an orthopedic surgeon for tone mgmt or orthopedic complications as indicated | Exam to assess for evidence of hip dislocation, joint contractures, scoliosis |
Neurologic | Consultation w/pediatric neurologist | Eval of movement disorders, tone, seizures Miscellaneous/ |
Other | Consultation w/nutritionist | Assessment of nutritional status needs Consultation w/developmental specialist |
Treatment of Manifestations in Individuals with Pelizaeus-Merzbacher-Like Disease 1 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 |
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 | Prevention of Secondary Complications Table 5. |
Prevention of Secondary Complications in Individuals with Pelizaeus-Merzbacher-Like Disease 1 Complication | Preventive Measure | Considerations/Other |
Constipation | Dietary management, laxatives, stool softeners | — |
Bone health | Regular monitoring of serum vitamin D calcium levels | If osteopenia is documented, consult w/bone health clinic to consider measures to avoid fracture. Community- acquired |
pneumonia | Good hand hygiene; influenza pneumococcal vaccines | Some affected individuals are reported to have deterioration of neurologic function w/febrile illness infection.1 Psychosocial consequences |
in caregiver | Involvement of social worker | 1. , Surveillance Table 6. |
