| Disorder | Gene | Locus | Clinical features |
| CMT1 | - Onset in first or second decade
|
| CMT1A | PMP22 | 17p12 | - Motor symptoms predominate (clumsy walking)
- Gradual loss of proprioception and vibration
- Ambulation usually maintained
- Normal life expectancy
- Palpable enlargement of the peripheral nerves
- NCV slowed to <60% normal
|
| CMT1B | MPZ | 1q23.3 |
| CMT1C | LITAF | 16p13.13 |
| CMT1D | EGR2 | 10q21.3 |
| CMT1E | PMP22 | 17p12 |
| CMT1F | NEFL | 8p21 |
| Roussy-Levy | MPZ | 1q23.3 | - CMT1 features plus:
- Postural tremor and gait ataxia
|
| PMP22 | 17p12 |
| CMT2 | - Onset in second or third decade
|
| CMT2A | MFN2 | 1p36.2 | - Sensory symptoms predominate
|
| CMT2B | RAB7 | 3q21.3 |
| CMT2C | TRPV4 | 12q24.1 |
| CMT2D | GARS | 7p15 |
| CMT2E | NEFL | 8p |
| CMT2F | HSPB1 | 7q11.23 |
| CMT2H | Unknown | 8q13-q23 |
| CMT2I/2J | MPZ | 1q23.3 |
| CMT2K | GDAP1 (JPH1 modifier) | 8q21.11 |
| CMT2L | HSPB8 | 12q24.23 |
| CMT2M | DNM2 | 19p13.2 |
| CMT2N | AARS1 | 16q22.1 |
| CMT2O | DYNC1H1 | 14q32.31 |
| CMT2P | LRSAM1 | 9q33.3-q34.1 |
| CMT2S | IGHMBP2 | 11q13.3 |
| CMT2T | MME | 3q25.2 |
| CMT2U | MARS1 | 12q13.3 |
| Early onset | | Not known | - Onset before age 5 years
- Rapid progression of weakness below the knee
- Loss of ambulation by mid-teens
- NCV normal or mildly reduced
|
| CMTX | |
| CMTX1 | GJB1 | Xq13.1 | - CMT1 features plus:
- Symptoms more prominent in males
- Symptomatic in second decade
- Loss of ankle reflexes
- NCV moderately slowed
|
| CMTX2 | Not known | Xp22 | - Affects males only
- Infantile onset with risk of intellectual disability
- May have both axonal and demyelinating physiology
|
| CMTX3 | 78kb insertion from chromosome 8 | Xq27.1 | - Affects males only
- Juvenile onset
- Prominent sensory symptoms
|
| CMTX4 (Cowchock syndrome) | AIFM1 | Xq26 | - Affects primarily males, who have infantile onset axonal neuropathy with deafness and intellectual disability
- Females have mild symptoms
|
| CMTX5 | PRPS1 | Xq22.3 | - Affects males only
- Deafness and optic neuropathy
|
| CMTX6 | PDK3 | Xp22.11 | - Affects primarily males
- Predominantly axonal sensorimotor polyneuropathy
|
| CMT3 | |
| Dejerine-Sottas syndrome | PMP22 | 17p12 | - Hypotonia in early infancy
- Delayed motor development
- Initial sensory loss and distal weakness
- Ataxia
- NCV profoundly slowed (10 m/second)
|
| MPZ | 1q23.3 |
| EGR2 | 10q21.3 |
| Congenital hypomyelinating neuropathy | PMP22 | 17p12 | - Profound hypotonia and contractures at birth
- Feeding difficulties
- Respiratory distress
- Death in infancy
- NCV extremely slowed or absent
|
| MPZ | 1q23.3 |
| EGR2 | 10q21.3 |
| CMT4 |
| CMT4A | GDAP1 | 8q21.11 | - Onset in early childhood
- Distal weakness
- Mild sensory loss
- Rapidly progressive
- Incapacity in first decade
|
| CMT4B1 | MTMR2 | 11q21 | - Onset at age 2 to 4 years
- Distal and proximal weakness
- Moderate sensory loss
- Frequent involvement of cranial nerves
|
| CMT4B2 | SBF2 | 11p15.4 | - Onset in first two decades
- Initial distal weakness
- Proximal weakness after several years
|
| CMT4B3 | SBF1 | 22q13.33 | - Onset mean age 8 years
- Slowly progressive leg weakness and gait difficulty
- Areflexia and sensory loss (vibration/position affected more than pain/temperature)
- Pes planus
|
| CMT4C | SH3TC2 | 5q32 | - Severe spinal deformities and weakness
- Onset in childhood and adolescence
|
| CMT4D | NDRG1 | 8q24.22 | - Early onset neuropathy
- Muscle weakness and wasting
- Skeletal deformities
- Sensory loss
- Neural deafness in second or third decade
- NCV severely reduced
|
| CMT4E | EGR2 | 10q21.3 | |
| CMT4F | PRX | 19q13.2 | - Onset in early childhood
- Distal muscle weakness
- Severe sensory loss
- Absent sensory and motor evoked response on NCV
|
| CMT4H | FGD4 | 12p11.21 | - Severe demyelinating neuropathy
- Unsteady gait
|
| CMT4J | FIG4 | 6q21 | - Childhood or adult onset
- Widespread denervation
|
