Charcot-Marie-Tooth Disease

Question 1

Charcot-Marie-Tooth Disease Overview

Answer 1

• Hereditary motor and sensory neuropathy
• Most common inherited neuromuscular disease
• Slowly progressive degeneration of nerve fibers causing muscle weakness and decrease in sensation
• Emerges in first two decades of life (weakness starts in LEs and eventually affects UEs)
• Caused by genetic mutation (diagnosis is very complicated process)

Question 2

Charcot-Marie-Tooth Disease Clinical Presentation

Answer 2

• Extremely variable depending on the pt
• Early signs = distal symmetrical weakness of feet and legs, clumsiness at young age, and lack of agility
• Common symptoms = pes caves (high arch), lower legs are thin (inverted champagne bottle), some sensory loss and numbness in both UEs and LEs, pain, and abnormal gait
• Later signs = UEs affected, wasting of hypothenar eminence, stork leg deformity (atrophy of lower legs), loss of fine motor control, restless leg syndrome, loss of dexterity and overall hand strength, and spinal deformities (scoliosis)

Question 3

Charcot-Marie-Tooth Disease Medical Management

Answer 3

• No cure or drug therapy
• Main treatment options are rehab therapy which involves both PT and OT
• Surgical treatment options = joint fusions, osteotomies or bone removal, soft tissue surgery, tendon transfers, or scoliosis surgery

Question 4

Charcot-Marie-Tooth Disease PT Management

Answer 4

• Decrease risk of contractures
• Stretching
• Grip strengthening
• Aerobic conditioning - as long as pt is comfortable and working at low moderate intensity
• Orthotic intervention = high top shoes, AFOs, KAFOs
• Hydrotherapy
• Balance and posture
• Gait training (progressive weakness can result in foot drop and abnormal high steppage gait)