Dejerine-Sottas neuropathy

=Dejerine-Sottas Neuropathy = Dejerine-Sottas neuropathy, also known as Hereditary Motor and Sensory Neuropathy Type III, is a rare genetic disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and sensory loss, primarily in the limbs. This condition is part of a group of disorders known as Charcot-Marie-Tooth disease (CMT), specifically a severe form of CMT.

History

Dejerine-Sottas neuropathy was first described by French neurologists Joseph Jules Dejerine and Jules Sottas in 1893. They identified the condition as a distinct form of neuropathy with unique clinical and pathological features.

Genetics

The disease is typically inherited in an autosomal dominant or autosomal recessive manner. Mutations in several genes have been associated with Dejerine-Sottas neuropathy, including:

• PMP22
• MPZ
• EGR2
• PRX

These genes are involved in the development and maintenance of the myelin sheath, which insulates nerve fibers and is crucial for proper nerve function.

Symptoms

Symptoms of Dejerine-Sottas neuropathy usually begin in early childhood and may include:

• Muscle weakness, particularly in the legs and feet
• Loss of sensation in the extremities
• Areflexia, or absence of reflexes
• Ataxia, or lack of coordination
• Scoliosis
• Foot deformities such as pes cavus

Diagnosis

Diagnosis of Dejerine-Sottas neuropathy involves a combination of clinical evaluation, family history, and genetic testing. Electrophysiological studies, such as nerve conduction velocity tests, can help assess the extent of nerve damage.

Treatment

There is currently no cure for Dejerine-Sottas neuropathy. Treatment focuses on managing symptoms and improving quality of life. This may include:

• Physical therapy to maintain muscle strength and flexibility
• Orthopedic devices, such as braces, to support mobility
• Pain management strategies
• Regular monitoring by a neurologist

Prognosis

The progression of Dejerine-Sottas neuropathy varies among individuals. Some may experience a slow progression of symptoms, while others may have a more rapid decline in function. Early intervention and supportive care can help manage symptoms and improve outcomes.

Research

Ongoing research aims to better understand the genetic basis of Dejerine-Sottas neuropathy and develop potential therapies. Advances in gene therapy and stem cell research hold promise for future treatment options.

See Also

• Charcot-Marie-Tooth disease
• Peripheral neuropathy
• Hereditary neuropathy
• Dejerine, J., & Sottas, J. (1893). Sur la n vrite interstitielle hypertrophique et progressive de l enfance. Revue Neurologique.
• Pareyson, D., & Marchesi, C. (2009). Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. The Lancet Neurology.

NIH genetic and rare disease info

• NIH info on Dejerine-Sottas neuropathy

Dejerine-Sottas neuropathy is a rare disease.