Table 1.
Clinical summary
| Case | Age/sex | Phenotype classification | Serum creatine kinase (IU/l)/age | Age of onset/ symptoms | Age of maximal motor ability/ motor function | Current motor ability | Pattern of muscle weakness | Brain MRI | Eye involvement | Other features/age |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 21 years/F | LGMD-no MR | 2000/1 month | 1.5 years/ frequent falls | 3–4 years/ managing stairs | Non-ambulant since 12 years | Proximal, DMD-like | Normal | No | Cardiac: FS= 27%/19 years |
| 2 | 14 years/F | LGMD-no MR | 1800/14 months | 1.5 years/ Gowers’ sign | 3–4 years/ managing stairs | Non-ambulant since 12 years | Proximal, DMD-like | Normal | No | Cardiac: mildly reduced LV function/12 years |
| 3 | 4 years/F | LGMD-no MR | 9097/4 years | 2 years/ Gowers’ sign | 4 years/ managing stairs | Fully ambulant | Proximal, DMD-like | ND | No | NA |
| 4 | 7 years/F | CMD-no MR | 6000/16 months | 1 years/not standing | 5–6 years/ standing frame | Sitting | Proximal | ND | No | NA |
| 5 | 11 years/F | CMD/LGMD- no MR | 5000/1 years | 1 years/reduced movement in legs | 4–5 years/ managing stairs | Non-ambulant | Proximal | Normal | No | NA |
| 6 | 8.5 years/M | LGMD-CRBa | 1500/6 months | 0.5 years/ oculomotor apraxia | 7 years/ running | Fully ambulant | Proximal | Cerebellar cysts | Severe myopia; oculomotor apraxia | NA |
| 7 | 18 years/F | LGMD-no MR | 4000/3.5 years | 3.5 years/ Gowers’ sign | 5 years/ managing stairs | Non-ambulant since 12 years | Proximal, DMD-like | Normal | No | Cardiac: EF= 45%/18 years Respiratory: nocturnal hypoventilation/18 years |
| 8 | 10 years/F | LGMD-MR | 5849/6 years | 3 years/walking difficulties | 10 years/ running | Fully ambulant | Proximal | Normal | No | Cognitive: moderate learning difficulties |
| 9 | 23 years/F | LGMD-CRBa | 719/23 years | 0.5 years/severe myopia and strabismus | 5 years/ managing stairs | Standing, few steps with assistance | Proximal | Brainstem hypoplasia; cerebellar hypoplasia; fourth ventricle dilatation | Severe myopia; strabismus | Respiratory: FVC= 49%/23 years Feeding: mild swallowing difficulties/23 years |
a Newly proposed dystroglycanopathy category: limb-girdle muscular dystrophy with cerebellar involvement (LGMD-CRB).
CMD = congenital muscular dystrophy; DMD = Duchenne muscular dystrophy; EF = ejection fraction; FS = fractional shortening; FVC = forced vital capacity; LV = left ventricle; MR = mental retardation; NA = not applicable; ND = not done.