Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with PMM2-CDG

System/ConcernEvaluationComment
Gastrointestinal/
Nutrition

Gastroenterology / nutrition / feeding team eval
  • To incl eval of growth, aspiration risk, & nutritional status
  • Consider eval for gastrostomy tube placement in infants w/dysphagia &/or aspiration risk.
Neurologic
  • Neurologic eval
  • Assess for ataxia, dysmetria, dysarthria.
  • Administer clinical ataxia scale (e.g., ICARS).
  • Consider baseline neuroimaging.
  • Baseline EEG if seizures are a concern
  • Nerve conduction studies in older affected persons
Development Developmental assessmentTo incl:
  • Motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
PT/OT assessment
  • In infants: gross motor & fine motor skills
  • In older children / adults assess mobility, ADL, & need for adaptive devices.
Speech therapy assessment
  • In infants, eval to assess suck & swallow
  • In older children / adults assess communication both oral & w/adaptive devices to optimize care & independence.
Eyes Ophthalmologic evalTo assess:
  • Vision
  • Ocular mobility
  • Structural anomalies of the lens & retina
  • Intraocular pressure
Cardiac Echocardiogram, EKG & chest x-ray to evaluate for cardiac anomalies, hypertrophic cardiomyopathy, & pericardial effusions
Liver function
  • Measurement of ALT, AST, serum albumin concentration
  • Liver ultrasound
Hematologic
  • Complete blood count
  • Assessment of bleeding & clotting parameters by hematologist incl prothrombin time, protein C, protein S, antithrombin III, factor IX, & factor XI
If prothrombin time is prolonged incl: factor II, factor V, factor VII & factor X.
Endocrine
  • Height assessment
  • TSH, thyroid binding globulin & free T4
  • Calcium, magnesium, & phosphorus
  • Glucose
In those w/hypoglycemia: further workup should incl: plasma insulin, cortisol, growth hormone, lactic acid, ammonia beta-hydroxybutyrate, free fatty acids, & urinary ketones
Assess gonadal function at pubertal age including tanner stage, growth velocity, bone age, FSH, LH, estradiol in females and testosterone & sex hormone binding globulin in males
Renal
  • Blood pressure
  • Serum creatinine
  • Urinalysis to evaluate for proteinuria & aminoaciduria
  • Renal ultrasound exam to evaluate for microcysts
Musculoskeletal
  • Orthopedics / physical medicine & rehab / PT & OT assessment for contractures & skeletal deformities
  • C-spine radiographs in neutral, extension, & flexion to assess for atlantoaxial instability
  • Assessment for kyphoscoliosis starting at adolescence
  • DXA scan starting in adolescence
Immunology
  • Leukocyte count & immunoglobulin levels
  • Antibody titer testing after vaccinations
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of PMM2-CDG to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; ALT = alanine transaminase AST = aspartate transaminase; DXA = dual-energy x-ray absorptiometry; ICARS = International Cooperative Ataxia Rating Scale; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy; T4 = thyroxine; TSH = thyroid-stimulating hormone

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: PMM2-CDG

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