Table 6.

Recommended Evaluations Following Initial Diagnosis in Individuals with CHKB-Related Muscular Dystrophy

System/ConcernEvaluationComments
Neurologic complication Muscle weakness By neurologistTo incl assessment of muscle tone, muscle strength of upper & lower limbs, neck & trunk, & deep tendon reflexes for hypotonia & hypo-/areflexia that often occur w/muscle weakness
Seizures
  • EEG if seizures are a concern
  • Brain MRI for possible focal epileptic focus
Musculoskeletal complications / Limitations on ADL By physical medicine & rehab physician / PT & OTTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • PT to improve gross motor skills
  • OT to improve fine motor skills
By orthopedistTo incl exam of:
  • Hips & x-ray for subluxation
  • Spine & x-ray for scoliosis
  • Joints for contractures
Developmental delay /
Intellectual disability 		By developmental pediatrician / clinical psychologistTo incl assessment of
  • Developmental performance
  • Adaptive & cognitive eval
  • Need for early intervention / special education support
Speech delay By speech-language pathologistTo incl assessment of language & need for ongoing speech-language therapy
Behavioral issues By developmental pediatrician &/or mental health professionalFor persons age >12 months: screening for behavior concerns incl possible ASD, ADHD, &/or sleep disturbance
Ichthyosis By dermatologistAs needed for skin lesions
Cardiomyopathy By cardiologistAssessment for possible cardiomyopathy
Hearing loss By audiologist
  • To assess degree & nature of hearing loss
  • To refer to otolaryngologist
Feeding issues By dietitian / speech-language pathologist
  • For dietary advice
  • For videofluoroscopic swallowing study
  • For referral to gastroenterologist
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CHKB-MD to facilitate medical & personal decision making
Family support
& resources 		Social support evalAssess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; MOI = mode of inheritance; PT = physical therapy; OT = occupational therapy

1.

Medical geneticist, certified genetic counseling, certified advanced genetic nurse

From: CHKB-Related Muscular Dystrophy

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