Table 7.

Treatment of Manifestations in Individuals with CHKB-Related Muscular Dystrophy

Manifestation/ConcernTreatmentConsiderations/Others
Muscle weakness /
Limitations on ADL 		Physical medicine & rehab / PT & OT
  • Incl stretching & training to avoid contractures & falls
  • Consider need for positioning & mobility devices, disability parking placard / permit card.
Seizures Treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Scoliosis / Hip subluxation Per treating orthopedistBracing as indicated by treating orthopedist; corrective surgery if indicated
Preoperation assessment Per evaluating anesthesiologist
  • Assess respiratory & cardiac status (w/attention to possible cardiomyopathy).
  • Malignant hyperthermia precautions given history of rhabdomyolysis in some persons
Developmental delay /
Intellectual disability 		Per evaluating developmental pediatrician / clinical psychologist
  • Assess need for early intervention & referral for multidisciplinary specialists.
  • Assess need for early referral for special education support.
Speech development Per treating speech-language pathologistConsider eval for alternative means of communication for persons who have expressive language difficulties.
Behavioral issues Standardized treatment w/behavioral therapy &/or medical treatment per experienced developmental pediatrician / mental health professionalMany medications may be effective to improve attention, hyperactivity, and emotional issues; none has been demonstrated effective specifically for this disorder.
Ichthyosis Per treating dermatologistTopical treatment for skin hydration & to ↓ scaling
Cardiomyopathy Standardized treatment w/cardiac medication per experienced cardiologistMany cardiac medications may be effective; none has been demonstrated effective specifically for this disorder.
Hearing loss Hearing aids may be helpful per treating otolaryngologist.Communication & hearing services through early intervention or school district
Feeding issues
  • Dietary plan by dietitian
  • Feeding plan per treating gastroenterologist or feeding team
Consider gastrostomy feeding if oral feeding is unsafe.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Consider involvement in adaptive sports or Special Olympics.
  • Ongoing assessment of need for palliative care involvement &/or home nursing

ADL = activities of daily living; ASM = anti-seizure medication

1.

Caregiver education on the disease state and medication use, including possible side effects

From: CHKB-Related Muscular Dystrophy

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