Charcot Marie Tooth Disease Flashcards
What is Charcot Marie tooth disease?
An inherited disease that affects the peripheral motor and sensory neurones.
It is also known as hereditary motor and sensory neuropathy.
There are various types, with different genetic mutations and pathophysiology, causing myelin or axon dysfunction.
Typical inheritance pattern for Charcot Marie tooth disease?
Autosomal dominant
When do symptoms usually start for Charcot Marie tooth disease?
Symptoms usually start to appear before the age of 10 but can be delayed until 40 or later.
What are the 2 main types of Charcot Marie tooth disease?
Type 1 = demyelinating syndrome
Type 2 = axonal syndrome
What are some classical features of Charcot-Marie tooth disease?
High foot arches (pes cavus)
Distal muscle wasting causing “inverted champagne bottle legs”
Lower leg weakness, particularly loss of ankle dorsiflexion (with a high stepping gait due to foot drop)
Weakness in the hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss
Why is it referred to as “inverted champagne bottle legs”?
This is because there is distal muscle weakness around the shin area of the legs giving the appearance of a champagne bottle flipped over hence the name.
What is peripheral neuropathy?
Peripheral neuropathy refers to reduced sensory and motor function in the peripheral nerves, typically affecting the feet and hands (“stocking-glove” distribution).
It is a characteristic feature of Charcot-Marie-Tooth.
What is the ABCDE mnemonic for causes of peripheral neuropathy?
A – Alcohol
B – B12 deficiency
C – Cancer (e.g., myeloma) and Chronic kidney disease
D – Diabetes and Drugs (e.g., isoniazid, amiodarone, leflunomide and cisplatin)
E – Every vasculitis
What is the management of Charcot Marie tooth disease?
Supportive management is the key method used along with advice from different members of the multidisciplinary team.
