Table 3.

Recommended Evaluations Following Initial Diagnosis in a Proband with a mtDNA Maintenance Defect Resulting in Chronic Disease

System/
Concern		EvaluationComment
Eyes Ophthalmologic eval (See POLG-Related Disorders.)To assess for optic atrophy, ptosis, ophthalmoplegia, & nystagmus
ENT/Mouth Hearing eval (See POLG-Related Disorders.)
Cardiovascular
  • Echocardiogram
  • Electrocardiogram
For persons w/myopathy
Respiratory
  • Venous blood gases
  • Pulse oximetry & pulmonary function tests
  • Polysomnography
To identify respiratory insufficiency in persons w/myopathy
Gastrointestinal
  • Liver function test (transaminases, albumin, coagulation profile)
  • Liver ultrasound
For persons w/hepatopathy
For MNGIE disease (see Mitochondrial Neurogastrointestinal Encephalopathy Disease):
  • Consultation w/gastroenterologist
  • Depending on manifestations: abdominal films, abdominal CT, upper GI contrast radiography, esophagogastroduodenoscopy, sigmoidoscopy, liquid phase scintigraphy, antroduodenal manometry
To evaluate for gastrointestinal dysmotility
Feeding
  • Swallowing assessment
  • Nutritional eval
In individuals w/feeding difficulty & growth failure 1
Renal
  • Urinalysis
  • Urine amino acids, calcium, phosphate, & protein
To evaluate for tubulopathy
Neurologic
  • Comprehensive neurologic exam
  • Brain MRI & MRS
  • Nerve conduction studies & electromyography (if neuropathy is suspected)
  • Electroencephalography (if seizures are suspected)
For persons w/neurologic manifestations
Musculoskeletal Referral to rehabilitation specialistEvaluate gait, weakness, safety, activities of daily living
Genetics & metabolic
  • Consultation w/clinical geneticist &/or genetic counselor
  • Lactate level to evaluate for lactic acidosis
  • Glucose level to evaluate for hypoglycemia

From: Mitochondrial DNA Maintenance Defects Overview

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