Peripheral Neuropathy

Question 1

What is pathophysiology of sensory peripheral neuropathy?

Answer 1

DM, alcohol, RA, drugs, malignancy, B12 deficiency, chronic renal failure

Question 2

What is the pathophysiology of motor peripheral neuropathy?

Answer 2

Guillain Barre syndrome, lead toxicity, porphyria, Charcot-Marie Tooth disease.

Question 3

What Ix in peripheral neuropathy?

Answer 3

Urine dipstick, blood sugar, FBC, B12, Hx of EtoH.

Question 4

What is Charcot-Marie Tooth disease?

Answer 4

Several types of hereditary motor and sensory neuropathies; classified according to genetic mutations.
Involves neuronal degeneration; caused by mutations to genes coding the proteins involved in the structure or function of nerve axons or myelin sheaths.

Question 5

What is the aetiology of Charcot-Marie Tooth disease?

Answer 5

Inherited disorder; mostly autosomal dominant, but there are X-linked forms.

Question 6

What are the symptoms of Charcot-Marie Tooth disease?

Answer 6

Gradual onset; some asymptomatic patients are picked up on screening.
Loss of balance, foot deformities (high arch/hammer toes), weakness.

Question 7

What are the signs of Charcot-Marie Tooth disease?

Answer 7

Weakness, atrophy, hyporeflexia/areflexia, sensory loss, nerve enlargement.

Question 8

What Ix in Charcot Marie Tooth disease?

Answer 8

NCS, EMG, nerve biopsy, genetic testing.

Exclude other causes: infectious, immunological, endocrinological causes, vitamin and nutritional deficiencies.

Question 9

What Rx in Charcot Marie Tooth disease?

Answer 9

Physiotherapy, OT, orthopaedic devices to maintain mobility, analgesia.