Table 1 Clinical, neurophysiological, pathological and radiological features of affected individuals
Patient ID | II-6 | III-3 | III-5 | III-8 | IV-4 | Patient 1s | Patient 2s | Patient 3s | Patient 4s |
|---|---|---|---|---|---|---|---|---|---|
Sex | F | M | M | M | M | F | F | M | F |
Age at onset | 50 y | 30 y | 27 y | 10 y | 20 y | 16 y | 11 y | 45 y | 6 y |
Onset symptoms | Â | Â | Â | Â | Â | Difficulties in climbing stairs | Impossibility to jump | Difficulties in climbing stairs | Bilateral foot drop |
Age last seen | 79 y | 52 y | 52 y | 47 y | 22 y | 39 y | 40 y (now 59 y) | 57 y | 39 y |
Upper limb proximal weakness | severe | medium grade | severe | severe | absent | severe | severe | absent | medium grade |
Upper limb distal weakness | medium grade | moderate | medium grade | severe | absent | medium grade | severe | absent | medium grade |
Lower limb proximal weakness | severe | medium grade | severe | severe | absent | severe | severe | medium grade | severe |
Lower limb distal weakness | severe | medium grade | severe | severe | moderate | severe | severe | medium grade | severe |
Ambulant | No | Yes | Yes | No | Yes | No (lost at 30Â year) | No (lost at 40Â year) | Yes | No (lost at 37Â years) |
Facial weakness | moderate | moderate | absent | moderate | absent | absent | absent | absent | absent |
Dysarthria | Yes | Yes | Yes | Yes | No | No | Yes | No | No |
Dysphagia | Yes | Yes | Yes | Yes | No | No (occasional episodes in the last few months) | Yes (gastrostomy at age 58) | No | No |
Dysphonia | Yes | No | Yes | Yes | No | No | No | No | No |
Tongue atrophy | Yes | No | No | Yes | No | No | No | No | No |
Other clinical features | Dyspnea Areflexia | Areflexia Pes cavus | Dyspnea Areflexia | Dyspnea; Contractures: thumb-wrist-elbow Areflexia | Hyporeflexia | Contractures (bilateral ankle, left knee), mild non progressive respiratory involvement | Since 57 nocturnal and daily non invasive ventilation, cough mechanical assistance, | Contractures (mild bilateral ankle) | At 17Â years Achille tendons surgical correction, mild respiratory involvement |
Muscle MRI | n.p. | Diffuse substitution of lower limb-girdle muscles and posterior eg muscles | Diffuse substitution of lower limb-girdle muscles and posterior leg muscles | n.p. | n.p. | Diffuse substitution of lower limb-girdle muscles and posterior leg muscles | Diffuse substitution of lower limb-girdle muscles and posterior leg muscles | Substitution of adductor magnus, femoral biceps, gastrocnemii | Thigh and leg diffuse substitution (relatively less relevant in left semitendinosus, biceps and soleus) |
CK | n.p. | 4x | 1.5x | n.p. | n.p. | normal | 1.2x | 1.5x | 1.1x |
EMG | n.p. | Myogenic pattern; mild neurogenic changes | Myogenic pattern | Myogenic pattern | Myogenic pattern | Myogenic pattern and spontaneous activity | Myogenic pattern and spontaneous activity | Myogenic pattern | Myogenic pattern |
Muscle biopsy | n.p. | Dystrophic, rimmed vacuoles | Dystrophic, rimmed vacuoles | Dystrophic, rimmed vacuoles | n.p. | Dystrophic, rimmed vacuoles | Dystrophic, rimmed vacuoles | Myopathic, rimmed vacuoles | Dystrophic, rimmed vacuoles |