Table 1

Baseline characteristics of 12 patients with LGMD2N

Case 1*Case 2*Case 3Case 4Case 5Case 6Case 7Case 8Case 9†Case 10†Case 11Case 12
Gender/age (years)Woman/25Man/20Woman/51Man/52Man/54Man/41Woman/18Woman/18Woman/33Man/29Woman/63Woman/32
PhenotypeLGMDLGMDLGMDLGMDCMD/LGMDLGMDCMD/LGMDCMD/LGMDLGMDLGMDLGMDLGMD
Disease onset (years)2548From birth2.5From birthFrom birth425525
Presenting symptomsDifficulties walking and runningDifficulties walking and runningLearning difficulties, oriented to special schoolDifficulties in learning mathematics and scienceDelay in cognitive development‡Walked at age 2, 5 and increasing weaknessCongenital, delay in developmentCongenital, delay in developmentDifficulties walking and runningDifficulties walking and runningWeakness of lower legsDifficulty getting off the floor and climbing stairs
Age at muscle MRI (years)252049495438171822186028
EthnicityArab (DK)Arab (DK)CA (FR)CA (FR)CA (DK)CA (AZ)CA (SP)CA (SP)CA(BE)CA(BE)CA(UK)Persian(IR)
Brain MRICentral atrophy, ventricular enlargementNormalNormalT2-weighted periventricular hyperintensitiesFrontal atrophy in left hemisphereNDNormalNormalNormalNormalNormalND
MMSE/
Age at exam (years)		16/30
25		19/30
20		26/30
51		25/30
52		10/30
54		ND28/30
18		20/30
18		27/30
33		28/30
29		29/30
63		26/30
32
FVCNDND76%51%ND76%71.7%44.2%72%ND83%56%
ECGSingle premature ventricular contractionSinus bradycardia with right bundle branch blockNormalNormalNormalNormalNormalNormalNon-specific repolarisation abnormalitiesNDNormalNormal
Cardiac echoNDNormalNormal
LVEF=67%		Normal
LVEF=65%		LVEF=50%NormalDilated cardiomyopathy, LVEF=45%–50%NormalNormalNDLVEF=65%
Mild tricuspid insufficiency		Normal
10 m walk test10.98 s6.26 s16 s16 s70.67 sCannot walk<6 s<6 sCannot walk without support7.41NDND
Walking aidsNoneNoneTwo canesOne caneWalking frame with wheelsWheelchairNoneNoneWheelchairNoneNoneOne crutch
CK (U/L)1590541042013985852762–400026402000–40007646508630003120

  • * and † siblings.

  • ‡ Cognitive development such as language and motor milestones

  • Arab, Arabic; AZ, Azerbaijan; BE, Belgian; CA, Caucasian; CK, creatine kinase; CMD, congenital muscular dystrophy; DK, Danish; Fr, French; FVC, forced vital capacity; IR, Iranian; LGMD, limb girdle muscular dystrophy; LVEF, left ventricular ejection fraction; MMSE, Minimal Mental Status Examination; ND, not done; SP, Spanish; UK, British.