Dejerine–Sottas disease


Dejerine–Sottas disease, also known as, Dejerine–Sottas neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy, is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. The condition is caused by mutations in a various genes and currently has no known cure.
The disorder is named for Joseph Jules Dejerine and Jules Sottas, French neurologists who first described it.

Signs and symptoms

Onset occurs in infancy or early childhood, usually before 3 years of age. Progression is slow until the teenage years at which point it may accelerate, resulting in severe disability.
Symptoms are usually more severe and rapidly progressive than in the other more common Charcot–Marie–Tooth diseases. Some patients may never walk and solely use wheelchairs by the end of their first decade, while others may need only a cane or similar support through life.
Dejerine–Sottas disease is characterized by moderate to severe lower and upper extremity weakness and loss of sensation, which occur mainly in the lower legs, forearms, feet and hands. Loss of muscle mass and reduced muscle tone can occur as the disease progresses. Other symptoms may include pain in the extremities, curvature of the spine, clawed hands, foot deformities, ataxia, peripheral areflexia, and slow acquisition of motor skills in childhood. Symptoms that are less common can include limitation of eye movements, other eye problems such as nystagmus or anisocoria, or mild hearing loss.

Causes

Dejerine–Sottas neuropathy is caused by a genetic defect either in the proteins found in axons or the proteins found in myelin. Specifically, it has been associated with mutations in MPZ, PMP22, PRX, and EGR2 genes. The disorder is inherited in an autosomal dominant or autosomal recessive manner.

Diagnosis

On medical imaging, the nerves of the extremities appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct "onion-bulb" appearance. Peripheral nerve excitability and conduction speed are reduced.

Treatment

Management is symptomatic.