Case 1* | Case 2* | Case 3 | Case 4 | Case 5 | Case 6 | Case 7 | Case 8 | Case 9† | Case 10† | Case 11 | Case 12 | |
Gender/age (years) | Woman/25 | Man/20 | Woman/51 | Man/52 | Man/54 | Man/41 | Woman/18 | Woman/18 | Woman/33 | Man/29 | Woman/63 | Woman/32 |
Phenotype | LGMD | LGMD | LGMD | LGMD | CMD/LGMD | LGMD | CMD/LGMD | CMD/LGMD | LGMD | LGMD | LGMD | LGMD |
Disease onset (years) | 2 | 5 | 4 | 8 | From birth | 2.5 | From birth | From birth | 4 | 2 | 55 | 25 |
Presenting symptoms | Difficulties walking and running | Difficulties walking and running | Learning difficulties, oriented to special school | Difficulties in learning mathematics and science | Delay in cognitive development‡ | Walked at age 2, 5 and increasing weakness | Congenital, delay in development | Congenital, delay in development | Difficulties walking and running | Difficulties walking and running | Weakness of lower legs | Difficulty getting off the floor and climbing stairs |
Age at muscle MRI (years) | 25 | 20 | 49 | 49 | 54 | 38 | 17 | 18 | 22 | 18 | 60 | 28 |
Ethnicity | Arab (DK) | Arab (DK) | CA (FR) | CA (FR) | CA (DK) | CA (AZ) | CA (SP) | CA (SP) | CA(BE) | CA(BE) | CA(UK) | Persian(IR) |
Brain MRI | Central atrophy, ventricular enlargement | Normal | Normal | T2-weighted periventricular hyperintensities | Frontal atrophy in left hemisphere | ND | Normal | Normal | Normal | Normal | Normal | ND |
MMSE/ Age at exam (years) | 16/30 25 | 19/30 20 | 26/30 51 | 25/30 52 | 10/30 54 | ND | 28/30 18 | 20/30 18 | 27/30 33 | 28/30 29 | 29/30 63 | 26/30 32 |
FVC | ND | ND | 76% | 51% | ND | 76% | 71.7% | 44.2% | 72% | ND | 83% | 56% |
ECG | Single premature ventricular contraction | Sinus bradycardia with right bundle branch block | Normal | Normal | Normal | Normal | Normal | Normal | Non-specific repolarisation abnormalities | ND | Normal | Normal |
Cardiac echo | ND | Normal | Normal LVEF=67% | Normal LVEF=65% | LVEF=50% | Normal | Dilated cardiomyopathy, LVEF=45%–50% | Normal | Normal | ND | LVEF=65% Mild tricuspid insufficiency | Normal |
10 m walk test | 10.98 s | 6.26 s | 16 s | 16 s | 70.67 s | Cannot walk | <6 s | <6 s | Cannot walk without support | 7.41 | ND | ND |
Walking aids | None | None | Two canes | One cane | Walking frame with wheels | Wheelchair | None | None | Wheelchair | None | None | One crutch |
CK (U/L) | 1590 | 5410 | 4201 | 398 | 585 | 2762–4000 | 2640 | 2000–4000 | 7646 | 5086 | 3000 | 3120 |
* 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.