Table 1 Clinical features of the patients
No | Sex/age | Age of onset | Muscle strength* | Deep tendon reflexes | Skeletal deformities | Cardiac abnormalities | Respiratory abnormalities | CK U/L | EMG | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
Neck flexion | Proximal limb | Distal limb | |||||||||
A II-6 | F/48 | 28 | 2 | Upper: 4 Lower: 4- | Finger extension: 4- Ankle dorsiflexion: 0 Ankle plantarflexion: 3 +  | Absent | Contracture of Achilles tendon, winging scapula | - | Sleep apnea | Normal | Myogenic |
A III-1 | M/13 | 8 | 4 +  | Upper: 5 Lower: 4 +  | Finger extension: 5 Ankle dorsiflexion: 4 Ankle plantarflexion: 5 | Brisk | Contracture of Achilles tendon | - | - | Normal | N.A |
B II-2 | F/45 | 30 | 4 | Upper: 5 Lower: 5 | Finger extension: 4 Ankle dorsiflexion: 4 Ankle plantarflexion: 5 | Brisk | - | - | - | Normal | Myogenic |
B III-1 | F/20 | 3 | 4 +  | Upper: 5 Lower: 5 | Finger extension: 3 Ankle dorsiflexion: 4- Ankle plantarflexion: 5 | Brisk | Scoliosis, pes cavus | - | - | 917 | Neurogenic |
C III-1 | M/20 | 7 | 4 | Upper: 4 Lower: 5 | Finger extension: 4 Ankle dorsiflexion: 4- Ankle plantarflexion: 5 | Absent | Contracture of Achilles tendon, scoliosis, winging scapula, strephenopodia | - | Sleep apnea | Normal | Neurogenic |
D II-2 | F/29 | 2 | 5 | Upper: 0 (left)/ 5 (right) Lower: 4 +  | Finger extension: 0 Ankle dorsiflexion: 0 Ankle plantarflexion: 5 | Brisk | - | - | - | Normal | Myogenic |