Dejerine–Sottas disease

Dejerine-Sottas Syndrome

Dejerine–Sottas disease (DSD), also known as hereditary motor and sensory neuropathy type III (HMSN III) or Dejerine–Sottas neuropathy, is a rare genetic disorder that affects the peripheral nervous system. It is characterized by progressive muscle weakness and sensory loss, primarily in the extremities.

History

Dejerine–Sottas disease was first described by Joseph Jules Dejerine and Jules Sottas in 1893. The condition is named after these two French neurologists who identified the disease based on its clinical and pathological features.

Genetics

Dejerine–Sottas disease is typically inherited in an autosomal recessive manner, although some cases may follow an autosomal dominant pattern. Mutations in several genes, including PMP22, MPZ, EGR2, and PRX, have been associated with the disease. These genes are involved in the development and maintenance of myelin, the protective sheath surrounding nerve fibers.

Pathophysiology

The primary pathological feature of Dejerine–Sottas disease is the abnormal development and maintenance of myelin, leading to demyelination and subsequent axonal loss. This results in impaired nerve conduction and the clinical manifestations of the disease.

Clinical Features

Patients with Dejerine–Sottas disease typically present in early childhood with symptoms such as:

• Progressive muscle weakness, particularly in the legs and feet
• Loss of sensation in the extremities
• Areflexia (absence of reflexes)
• Foot deformities such as pes cavus (high-arched feet)
• Scoliosis (curvature of the spine)

Diagnosis

The diagnosis of Dejerine–Sottas disease is based on clinical evaluation, family history, and genetic testing. Nerve conduction studies and electromyography (EMG) can help assess the extent of nerve damage. Nerve biopsy may show characteristic features such as onion bulb formations due to repeated cycles of demyelination and remyelination.

Treatment

There is currently no cure for Dejerine–Sottas disease. Treatment is primarily supportive and focuses on managing symptoms and improving quality of life. This may include:

• Physical therapy to maintain muscle strength and mobility
• Orthopedic devices such as braces or orthotics to support weakened limbs
• Pain management for neuropathic pain
• Surgical interventions for severe foot deformities or scoliosis

Prognosis

The progression of Dejerine–Sottas disease varies among individuals. Some patients may experience a relatively mild course, while others may develop significant disability. Early intervention and supportive care can help manage symptoms and improve outcomes.

Related Pages

• Peripheral neuropathy
• Charcot–Marie–Tooth disease
• Hereditary neuropathy
• Myelin
• Genetic disorder

See Also

• Joseph Jules Dejerine
• Jules Sottas