Table 3.
Clinical phenotype of patients with MTMR2 related Charcot-Marie-Tooth disease.
| Clinical findings | Frequency |
|---|---|
| Skeletal deformities | |
| Chest deformities | 7/25 (28%) |
| Thoracic kyphosis | 3/25 (12%) |
| Scoliosis | 3/25 (12%) |
| Hand deformities | |
| Claw hands | 8/25 (32%) |
| Clenched hands | 1/25 (4%) |
| Foot deformities | |
| Pes cavus | 12/25 (48%) |
| Pes equinovarus | 3/25 (12%) |
| Pes planus | 1/25 (4%) |
| Bulbar/laryngeal findings | |
| Facial palsy | 3/25 (12%) |
| Facial weakness | 10/25 (40%) |
| Dysphagia | 5/25 (20%) |
| Vocal palsy | 7/25 (28%) |
| Respiratory difficulties | 8/25 (32%) |
| Stridor | 5/25 (20%) |
| Speech impairment | 11/25 (44%) |
| Adenoid hypertrophy | 3/25 (12%) |
| Arytenoid subluxation | 2/25 (8%) |
| Hypoplastic arytenoid | 1/25 (4%) |
| Eye disease | 4/25 (16%) |
| Myopic refractive error | 2/25 (8%) |
| Optic neuritis | 1/25 (4%) |
| Glaucoma | 1/25 (4%) |
| Further clinical findings | |
| Cervical schwannoma | 1/25 (4%) |
| Seizures | 1/25 (4%) |