Dejerine–Sottas disease, also Dejerine–Sottas syndrome or Dejerine–Sottas neuropathy (hereditary motor and sensory polyneuropathy type III; sometimes also described as a subtype III of Charcot–Marie–Tooth disease) is an autosomal dominant or autosomal recessive neuropathy.

Causes

It has been associated with MPZ

Myelin protein zero

Myelin protein zero is a glycoprotein associated with Charcot-Marie-Tooth disease and Dejerine-Sottas disease.-Interactions:Myelin protein zero has been shown to interact with Peripheral myelin protein 22.-Further reading:...

, PMP22

Peripheral myelin protein 22

Peripheral myelin protein 22, also known as PMP22, is a protein which in humans is encoded by the PMP22 gene. Alternative splicing of this gene results in three transcript variants that encode the same protein.- Function :...

, PRX

PRX (gene)

Periaxin is a protein that in humans is encoded by the PRX gene.-External links:*...

, and EGR2

EGR2

Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene.-Further reading:-External links:* *...

.

Symptoms

It is usually characterized by infantile onset of moderate to severe lower and upper extremity weakness and loss of sensation.

Symptoms are usually more severe and rapidly progressive than in the other more common Charcot–Marie–Tooth diseases. Some carriers may never walk and solely use wheelchairs by the end of their first decade, while others may need only a cane (walking stick) or similar support through life.

Symptoms range from very common (muscle weakness, reduced sensation in the extremities, pain in the extremities, clawed hands and deformed feet, ataxia

Ataxia

Ataxia is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum...

, peripheral areflexia) to rare (hearing loss, nystagmus, anisocoria

Anisocoria

-Causes:In the absence of the iris or eyeball proper, anisocoria is usually the result of a defect in efferent nervous pathways controlling the pupil traveling in the oculomotor nerve or the sympathetic pathways...

).

Diagnosis

On medical imaging, the nerves of the extremities (and cranial nerves

Cranial nerves

Cranial nerves are nerves that emerge directly from the brain, in contrast to spinal nerves, which emerge from segments of the spinal cord. In humans, there are traditionally twelve pairs of cranial nerves...

in some cases) appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct 'onion-bulb' appearance. Peripheral (and possibly cranial) nerve excitability and conduction speed are reduced.