Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with LAMA2 Muscular Dystrophy

System/ConcernEvaluationComment
Constitutional Height, weight, & nutritional status
Neurologic Complete exam by experienced neurologistTo incl assessment of strength
For seizures or unexplained fainting or loss of consciousnessTo incl EEG
Musculoskeletal Multidisciplinary neuromuscular clinic assessment by orthopedist, physical medicine, OT/PTTo incl assessment of:
  • Gross motor & fine motor skills
  • Contractures, clubfoot, & kyphoscoliosis
  • Need for adaptive devices
  • Need for PT (for improving gross motor skills) &/or OT (for improving fine motor skills)
Feeding Gastroenterology / nutrition / feeding teamAssessment of:
  • Nutritional status
  • For GERD
  • Constipation
  • Secretion management, aspiration risk
  • Optimal position for feeding
  • Bone health (serum concentrations of vitamin D & calcium)
Oral health Dental examBefore age 2 yrs (or at diagnosis) w/attention to enamel defects secondary to GERD, dry mouth, malocclusion/dental crowding interfering w/daily dental care
Respiratory By pulmonologist
  • Assess pulmonary function.
  • Evaluate for evidence of nocturnal hypoventilation esp in children w/recurrent respiratory infections, FTT, poor cry, or feeding fatigue.
Neurodevelopmental Developmental assessment
  • To incl motor, speech/language eval, & general cognitive skills
  • Eval for early intervention/special education in least restrictive educational environment
Cognitive/
Psychiatric
As determined by developmental pediatrician / mental health consultantTo determine if there are concerns about learning or mood, behavior, or other psychiatric issues
Cardiac By cardiologistFor evidence of cardiomyopathy &/or arrhythmia
Ophthalmologic By ophthalmologistFor evidence of ophthalmoparesis
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of LAMA2-MD to facilitate medical & personal decision making
Family/Community Assess:
  • Social work involvement to connect families w/local resources, respite, & support;
  • Care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies;
  • Need for palliative care.

FTT = failure to thrive; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapist/therapy; PT = physical therapist/therapy

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: LAMA2 Muscular Dystrophy

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