Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with UCMD / Intermediate COL6-RD

System/ConcernEvaluationComment
Constitutional Assessment of growth & feeding
  • Feeding difficulties may manifest as FTT during 1st 1-2 yrs of life.
  • FTT at age 10-12 yrs may reflect inadequately supported ventilation.
Musculoskeletal
  • Neuromuscular exam to evaluate degree & distribution of muscle weakness & its effects on mobility
  • Exam of joint contractures & joint hyperlaxity
  • Exam of back for evidence of stiffness &/or scoliosis
  • PT & OT assessment
Pulmonary Baseline polysomnogram w/CO2 monitoringDuring childhood to assess ventilation during deep sleep
Pulmonary function tests should be performed in both upright (seated) & supine (lying down) positions w/forced vital capacity monitored closelyStarting at age 5 yrs
Cardiology Eval w/cardiologist incl echocardiogram & EKGTo evaluate for right-sided heart strain in those w/respiratory insufficiency who are not using NIV or have inadequate BiPAP pressures
Other Consultation w/clinical geneticist &/or genetic counselor

BiPAP = bilevel positive airway pressure; FTT = failure to thrive; NIV = noninvasive ventilation; OT = occupational therapy; PT = physical therapy

From: Collagen VI-Related Dystrophies

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