CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E; CMT2E

INHERITANCE
- Autosomal dominant
HEAD & NECK
Face
- Facial muscle weakness (in some patients)
Eyes
- Ptosis (in some patients) 
Mouth
- High-arched palate (in some patients)
SKELETAL
- Joint contractures
Spine
- Scoliosis (in some patients)
Hands
- Claw hand deformities (in severe cases)
Feet
- Pes cavus 
- Hammer toes
- Foot deformities
MUSCLE, SOFT TISSUES
- Shoulder muscle weakness (in some patients)
- Hypotrophy of the small hand muscles
- Fiber-type predominance seen on muscle biopsy (in some patients)
- Fiber size variation (in some patients)
- Internal nuclei (in some patients)
- Increased connective tissue (in some patients)
- Nemaline rods (in some patients)
- Group fiber atrophy (in some patients)
- Angular fibers (in some patients)
- EMG consistent with chronic neurogenic disorder
NEUROLOGIC
Central Nervous System
- Delayed motor development (in some patients)
Peripheral Nervous System
- Distal limb muscle weakness due to peripheral neuropathy
- Distal limb muscle atrophy due to peripheral neuropathy
- 'Steppage' gait
- Foot drop
- Distal sensory impairment
- Hyporeflexia
- Areflexia
- Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s)
- Axonopathy seen on nerve biopsy
- Giant axons with accumulation of disorganized neurofilaments
MISCELLANEOUS
- Variable age of onset (range first to third decade)
- Usually begins in feet and legs (peroneal distribution)
- Upper limb involvement occurs later
- Variable severity
- Some patients may become wheelchair-bound
MOLECULAR BASIS
- Caused by mutation in the light polypeptide neurofilament protein gene (NEFL, 162280.0001)
