Table 4.

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Neuromuscular Neurologic eval
  • To incl assessment for hypotonia, dystonia, hypertonia, muscle weakness, muscle atrophy, movement disorders, & clinical signs of seizures
  • Brain MRI
  • Consider EMG to assess myopathy.
  • Consider EEG if seizures are a concern.
Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Hearing Audiologic evalTo assess for sensorineural hearing loss
Feeding/
Gastrointestinal 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of swallowing function / aspiration risk, nutritional status, & GERD
  • Consider eval for gastrostomy tube placement in affected persons w/dysphagia &/or aspiration risk.
Growth Measure weight, length/height, & head circumference; review growth charts.To assess for growth deficiency / failure to thrive
Vision/Ophthalmologic Ophthalmologic evalTo assess for reduced vision, ophthalmoplegia, ptosis, & strabismus that may require referral for subspecialty care &/or low vision services
Respiratory Pulmonary evalTo assess for sleep apnea
Skeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Joint contractures & kyphoscoliosis
  • Mobility, ADL, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SUCLA2-related mtDNA depletion syndrome to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ADL = activities of daily living; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; mtDNA = mitochondrial DNA; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria

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