Table 1

 Clinical features of patients with autosomal dominant core disease and ACTA1 mutations

PatientSexCurrent age (years)Clinical onsetDelayed motor milestonesMuscle weakness distributionFacial weaknessCardiomyopathyRespiratory insufficiencySkeletal abnormalitiesEvolution
Abbreviations: female (F), male (M), lower extremities (LE), upper extremities (UE).
Family 1
II:2M737 years: slow gaitMild: globalStable
II:4F708 years: slow gaitModerate: proximal UEMildMild scoliosisImprovement
II:6F665 years: slow gaitModerate: globalMildMild scoliosisStable
II:8F627 years: slow gaitMild: proximal UE, trunkModerateMild scoliosis, high arched palateImprovemnent
III:3M418 years: slow gaitMild: proximal E, trunkMild scoliosis, genu varumStable
III:9F39InfancyWalked at 3 yearsModerate: proximal E, trunkModerateModerate scoliosis, high arched palateStable
III:12F394 years: slow gaitMild: proximal LEMild scoliosisStable
IV:3F156 years: slow gaitMild: proximal LEMild scoliosis, moderate scapular winging, genu valgumStable
IV:11M137 years: waddling gaitMild: proximal LEFunnel chestStable
IV:13M112 years: slow gait and severe intoeingWalked at 2 yearsMild: proximal LE, post-exertional myalgiaMildJoint hyperlaxity, femoral anteversion, internal tibial torsion, scapular winging, high arched palateImprovement
Family 2
II:6M49InfancyWalked at 6 yearsMild: global; LE>UEMildHypertrophic cardiomyopathy49 years: global, nocturnal respiratory supportFunnel chest, flat feetStable
II:2M35InfancyWalked at 5 yearsMild: globalMildHypertrophic cardiomyopathy32 years: global, nocturnal respiratory supportJoint hyperlaxity, flat feet, scoliosis, funnel chest, high arched palateStable
III:4F5InfancyWalked at 2 yearsMild: LEJoint hyperlaxity, high arched palateStable
III:2M18InfancyMild: globalMildFunnel chest, flat feetStable