Table 1 Baseline clinical features of patients with hereditary myopathy
From: Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort
Clinical features | n(%) N = 87 | |
|---|---|---|
Pattern of weakness | ||
Limb girdle | 48 (55) | |
Distal muscle weakness | 11 (13) | |
Facioscapulohumeral | 9 (10) | |
Early respiratory muscle weakness and distal weakness | 3 (3) | |
Ptosis and ophthalmoplegia | 2 (2) | |
Humeroperoneal | 1 (1) | |
Distal extremity and axial weakness | 1 (1) | |
Normal manual muscle strength testing | 12 (14) | |
Clinical myotonia | ||
Type of myotonia | Grip | 9 (75) |
Tongue | 5 (42) | |
Eyelid | 3 (25) | |
Percussion | 2 (17) | |
Contractures | 21 (24) | |
Site of contracture | Achilles | 17 (81) |
Knee | 11(52) | |
Elbow | 10 (48) | |
Neck | 4 (19) | |
Wrist | 2 (10) | |
Finger flexors | 1 (5) | |
Calf atrophy | 7 (8) | |
Calf hypertrophy | 6 (7) | |
Scapular winging | 13 (15) | |
Scoliosis | 19 (22) | |
Hyperlordosis | 11 (13) | |
Myalgia | 31 (36) | |
Recurrent periodic paralysis | 3 (3) | |
Recurrent rhabdomyolysis | 2 (2) | |
Asymptomatic hyperCkemia | 1 (1) | |
Ambulation status at the last follow up visit | Walk without assistance | 53 (61) |
Wheelchair bound | 22 (25) | |
Walk with unilateral assistance | 5 (6) | |
Bedridden | 2 (2) | |
Not mentioned | 5 (6) | |
Family history of muscle weakness | 48 (55) | |
Consanguinity present | 33 (38) | |