Herditary spastic paraparesis

Question 1

What is hereditary spastic paraplegia?

Answer 1

Group of inherited diseases

Main feature = progressive gait disorder due to damage to longest axons of the corticospinal tract and the dorsal column

Weakness + spasms in legs

Question 2

Discuss the types of hereditary spastic paraparesis

Answer 2

Type 1: diagnosed if patient <35yrs

Type 2: diagnosed if patient >35yrs

Various types exist

Question 3

Inheritance pattern of hereditary spastic paraparesis

Answer 3

Autosomal dominant = most common

Autosomal recessive

X-linked

*Can be sporadic*

Question 4

Clinical hx of patient with hereditary spastic paraparesis?

Answer 4

Depends on type inherited

Main feature = progressive spasticity in lower limbs due to pyramidal tract dysfunction

Brisk reflexes, weak muscles and bladder disturbances

Gradual weakness in legs

Urinary difficulty

Lack of sensation in feet

Stumbling and tripping on ground

Question 5

How is hereditary spasic paraplegia diagnosed?

Answer 5

90% have pure form meaning symptoms are confined to lower limbs

Often a clinical diagnosis >> exclude spinal cord compression and MS

Ask about family hx

Investigations: MRI and CT to exclude other causes, genetic testing to confirm