Скачать или смотреть Charcot - Marie - Tooth Disease , Neurological Examination

Charcot-Marie-Tooth (CMT) disease is a genetic nerve disorder that affects the peripheral nerves (nerves of hands, arms, feet, and legs).
Key Points (Easy to remember)
Inherited (runs in families) 🧬
Causes nerve damage → muscle weakness + loss of sensation
Mostly affects feet and legs first, then hands
Slowly progressive, not sudden
Common Symptoms
Weakness in feet/legs
Foot drop (difficulty lifting foot while walking)
High arched feet (pes cavus) and hammer toes
Thin legs → called “inverted champagne bottle legs”
Numbness or tingling in hands/feet
Balance and walking problems
Types
CMT1 → nerve myelin sheath damage (most common)
CMT2 → nerve axon damage
CMTX → X-linked type (more severe in males)
Diagnosis
Family history
Nerve conduction studies (NCS) → slowed signals
Genetic testing
EMG (muscle electrical test)
Treatment
No cure, but symptoms can be managed:
Physiotherapy
Ankle-foot orthosis (AFO brace) for foot drop
Pain/nerve symptom control if needed
Occupational therapy for hand weakness
Complications
Difficulty walking
Hand weakness affecting daily activities
Rare: breathing muscle involvement in severe types
Quick Summary
CMT = genetic peripheral neuropathy → muscle weakness + sensory loss, mainly in feet/legs, slow progression, managed with therapy and braces, confirmed by nerve tests and genetics.