Table 3.
Clinical characteristics of patients with proven TRPV4 mutations
| Patient | Age at onset | Age at last examination | Symptoms at onset | Weakness lower limbs | Weakness upper limbs | Weakness | Vocal fold paresis | Scoliosis | Contractures | Sensory involvement | Additional features | Diagnosis | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (years) | Distal | Proximal | Distal | Proximal | Other | |||||||||
| CMT-455.01 | 14 y | 33 | Stridor | + | − | − | − | Left diaphragmatic paralysis | + | − | − | − | Respiratory insufficiency, pes cavus | Distal HMN with vocal fold paresis |
| CMT-456.01 | 6 m | 30 | Stridor | + | + | + | − | Scapular winging | + Unilateral L | + | − | − | Sensorineural hearing loss, arythenoidectomy L at 10 y | Scapuloperoneal SMA |
| CMT-456.03 | Childh | 52 | Weakness hands | + | + | + | − | − | + Unilateral L, asymptomatic | − | − | − | Sensorineural hearing loss, loss of myelinated fibres on sural nerve biopsy | Distal HMN with vocal fold paresis |
| CMT-456.05 | Childh | 36 | Distal weakness upper/lower limbs | + | − | + | − | − | + Unilateral, dysphonia | − | − | − | Sensorineural hearing loss | Distal HMN with vocal fold paresis |
| CMT-456.06 | Adol | 65 | Weakness hands | + | − | + | − | − | + 40 y, unilateral L | − | − | − | Bilateral hearing aids at 40 y | Distal HMN with vocal fold paresis |
| CMT-1100.01 | 14 y | 27 | Scoliosis | + (4) | − | + (4) | − | − | − | + | − | + Distal↓ vibration sense | − | HMSN2 |
| CMT-1100.03 | 11 y | 43 | Tripping with feet | + | + (4) | + | + (4) | Truncal | − | − | − | + Distal UL/LL | Wasting shoulders and mid thigh, pes cavus, restless legs syndrome | HMSN2 |
| CMT-858.05 | Childh | 39 | Scapular winging | + (2) | − | + (3) | − | Scapular winging, mild facial weakness | + Asymptomatic | − | − | + Distal↓ vibration sense | Pes cavus, hammertoes | Scapuloperoneal SMA |
| CMT-858.09 | Cong | 6 | Arthrogryposis lower limbs | + (2) | + (2) | + (3) | + (2) | Shoulder amyotrophy | + 1 y, unilateral L | + | Arthrogryposis lower limbs | − | Respiratory insufficiency, tracheostomy, bladder incontinence | Congenital distal SMA |
| F1 III.2 | 44 y | 71 | Distal weakness lower limbs | + (3, 4) | − | + (4) | − | − | + | − | − | + Minimal | Sensorineural hearing loss, bladder urgency | HMSN2C |
| F1 IV2 | 5 y | 48 | Distal weakness lower limbs | + (1) | + (4) | + (3) | + (4) | − | + Asymmetric | NA | − | + Mild | Pes cavus, bladder incontinence, CS | HMSN2C |
| F1 IV3 | 5 y | 46 | Stridor | + (2) | + (4) | + (3) | + (4) | Neck flexor (4) | + Asymmetric | NA | − | + Mild | Mild dysphagia, postural tremor, bladder urgency and incontinence, mild pes cavus, CS | HMSN2C/distal HMN |
| F1 IV4 | 3 y | 44 | Distal weakness lower limbs | + (0) | + (1) | + (0) | + (0) | Neck, truncal, diaphragm, tongue muscles, facial | + With dysphagia | + (9 y) | + (Elbow, fingers, wrists, knees, hips) | + Moderate | Sensorineural hearing loss, bladder incontinence, CS | HMSN2C |
| F1 V1 | 7 y | 24 | Distal weakness lower limbs | + (4) | − | + (4) | − | Neck flexor (4) | + (Intermittent hoarseness) | − | − | + Mild | Pes cavus, hammertoes | HMSN2C |
| F1 V3 | 5 y | 20 | Stridor | + (4) | − | + (4/5–) | − | Neck flexor (4) | + | − | − | + Mild | Bladder urgency, pes cavus, hammertoes, CS | HMSN2C |
| F1 V8 | 2 y | 18 | Stridor | + (4) | − | − | − | − | + | + Mild | − | + Minimal | Pes cavus | HMSN2C/HMN |
| CMT-165.01 | Childh | 52 | Distal weakness lower limbs | + | + | + (mild) | − | Scapular winging SCM, trapezius, | − | − | − | − | − | Scapuloperoneal SMA |
| CMT-165.03 | Cong | 27 | Club feet | + (1) | + (3) | − | − | SCM, trapezius | − | − | Talipes equinovarus, knees | − | Mild lumbar hyperlordosis, muscle hypertrophy UL plus deltoids and pectoralis, finger tremor | Congenital distal SMA |
| CMT-165.04 | 8 y | 10 | Distal weakness lower limbs | + (1, 2) | − | − | − | SCM, trapezius, neck flexors 10 y | − | − | Ankles | − | − | Scapuloperoneal SMA |
| CMT-149.01 | >20 y | 51 | Scoliosis | + | − | − | Scapular winging R, neck flexors | + | + (Thoracic) | − | − | Facial asymmetry | Scapuloperoneal SMA | |
| CMT-149.02 | Cong | 28 | Club feet | + (0) | + | + | − | Scapular winging, neck flexors | NA | + (Lumbar) | Talipes equinovarus | − | Facial asymmetry, tongue fasciculations, dorsal hyperlordosis | Congenital distal SMA |
| CMT-149.03 | Cong | 11 | Club feet | + (L>R) | + | − | − | Scapular winging, neck flexors, | − | − | Talipes equinovarus, knee L | − | Congenital distal SMA | |
| CMT-149.04 | Child | 12 | Pain lower limbs | + | − | − | − | Scapular winging (mild) | − | − | − | − | Scapuloperoneal SMA | |
| CMT-149.05 | Cong | 4 | Club feet, stridor | + | − | − | − | Scapular winging | + (Bilateral) | − | Talipes equinovarus | − | Gastrostomy | Congenital distal SMA |
| PN-1394.1 | 6 y | 15 | Distal weakness lower limbs | + | − | − | − | − | − | + | Ankles and knees | − | Short stature | HMSN2 |
+ = present; – = absent; y = year; m = month; childh = childhood; cong = congenital; adol = adolescence; L = left, R = right; SCM = sternocleidomastoideus muscle; NA = information not available; CS = cold sensitivity with worsening of weakness in hands; UL = upper limbs; LL = lower limbs.