Table 1 Clinical characterization of five Pakistani CMT patients
From: Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
Item/patient (sex) | PaC2:IV-1 (male) | PaC3:IV-1 (male) | PaC4:IV-1 (male) | PaC6:IV-2 (female) | PaC14:IV-2 (male) |
|---|---|---|---|---|---|
Gene: mutation | SH3TC2: p.Q867* | SH3TC2: p.G1217D | HK1: p.R7* | REEP1: p.G83Afs*44 | MFN2: p.V112M |
Type | CMT4C | CMT4C | CMT4G | dHMN5B/SMARD1 | CMT2A2B |
AOE/AOO (year) | 6/3 | 10/3 | 11/1 | 2.5/ < 1 | 7/5 |
Muscle atrophy | Yes | Yes | Yes | Yes | Yes |
FDS | 3 | 3 | 3 | 3 | 3 |
Sensory loss | Yes | Yes | Yes | No | Yes |
DTR, ankle | Absent | Absent | Absent | Decreased | Absent |
Foot deformities | Yes | Yes | Yes | Yes | Yes |
Brain/Spine MRI | ND | Normal brain | Normal spine | Normal brain | ND |
Other symptoms | Scoliosis | Scoliosis, short stature | – | Mild respiratory distress | Vocal cord hoarseness |
Motor nerve conduction studies | |||||
Median CMAP (mV) | 1.3 | Absent | ND | Absent | ND |
Median MNCV (m/s) | 14.1 | Absent | ND | Absent | ND |
Ulnar CMAP (mV) | 0.8 | 4.1 | ND | Absent | ND |
Ulnar MNCV (m/s) | 12.8 | 25.0 | ND | Absent | ND |
Peroneal CMAP (mV) | 0.8 | Absent | ND | Absent | ND |
Peroneal MNCV (m/s) | 14.9 | Absent | ND | Absent | ND |
Sensory nerve conduction studies | |||||
Median SNAP (μV) | Absent | 10.6 | ND | 22.0 | ND |
Median SNCV (m/s) | Absent | 26.0 | ND | 51.3 | ND |
Ulnar SNAP (μV) | Absent | ND | ND | 22.2 | ND |
Ulnar SNCV (m/s) | Absent | ND | ND | 39.5 | ND |
Sural SNAP (μV) | Absent | 8.8 | ND | 16.3 | ND |
Sural SNCV (m/s) | Absent | 32.0 | ND | 39.8 | ND |