Table 1.

Clinical presentation, maximal functional ability, weakness and contractures, spinal and respiratory impairment in the cohort studied

Patient no.Age, yLinkage to Col6 lociCollagen 6 stainingOnsetMaximum abilityLoss of independent ambulationLaxityContracturesRigidity of spineScoliosis
KAFO = knee–ankle–foot orthoses; ITB = ileo–tibial band; NA = not available.
15.5LinkedAlmost absentBirth: floppy, hip dislocation, respiratoryWalks at 18 moElbows, fingersTendon AchillesMild
221LinkedMildly reduced4 mo: delayed motor milestonesWalks at 18 moFingers, wristsHips, long finger flexorsYesMild
312LinkedAlmost absentBirth: floppyWalks in KAFONever achievedFingersITB, knees, tendon achilles, shoulders, elbowsYesSevere
42.7Markedly reduced3 mo: delayed motor milestonesWalks with supportNever achievedFinger, ankle, elbowHips, kneesMild
56Markedly reducedBirth: floppy, hip dislocationWalks in KAFO/walkerNever achievedFinger, wrist, anklesLong finger flexorsYesMild
611.6Markedly reducedFirst months: hip dislocationWalks in KAFONever achievedFingers, wristHips, knees, elbows, tendon achillesYesSevere (fusion)
711.8ExcludedNormalFirst months: delayed motor milestonesWalks with walkerNever achievedFinger, anklesHips, kneesYesMild
823.5ExcludedNAFirst months: delayed motor milestonesWalks with rolatorNever achievedFinger, anklesHips, knees, elbowsYesSevere (fusion)
921ExcludedNABirth: floppy, hip dislocationSitting crawlingNever achievedFinger, wrist, ankleHips, kneesYesSevere (fusion)
103ExcludedNAHypotonia at 3 moWalks at 10–11 moFingers, wristsHips, knees, tendon achilles, elbowsYesModerate
1114.5NormalFirst month: torticollis, scoliosis at 6 wkWalks at 18 moFingers, wristHips, tendon achilles, elbows, long finger flexorsYesSevere (fusion)
1212.5NormalFirst months: floppyWalks at 22 moFingers, wristHips, knees, tendon achilles, elbowsYesSevere (fusion)
1312.5NAFirst months: floppyWalks at 22 moFingers, wristHips, knees, tendon achilles, elbowsYes
144NormalFirst months: floppy, hip dislocationWalks in KAFOElbows, fingersHips, knees, tendon achillesYesMild
155NormalBirth: floppy, contractures, hip dislocationWalks with KAFO/frameNever achievedFingers, ankleElbowsYesMild