Adducted thumb syndrome

Adducted Thumb Syndrome

Adducted thumb syndrome (pronunciation: ad·duc·ted thumb syn·drome) is a rare, genetic, neuromuscular disorder characterized by a permanently flexed thumb, muscle weakness, and other physical abnormalities.

Etymology

The term "adducted" is derived from the Latin word "adductus", which means "drawn towards". In medical terminology, adduction refers to the movement of a body part towards the midline of the body. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of things running together".

Symptoms

The primary symptom of adducted thumb syndrome is the permanent flexion or bending of the thumb towards the palm. Other symptoms may include muscle weakness, contractures, intellectual disability, and respiratory distress.

Causes

Adducted thumb syndrome is a genetic disorder caused by mutations in the RAPSN gene. This gene provides instructions for making a protein that is critical for the normal function of nerve cells.

Diagnosis

Diagnosis of adducted thumb syndrome is based on a clinical examination of the physical symptoms, along with genetic testing to identify mutations in the RAPSN gene.

Treatment

Treatment for adducted thumb syndrome is symptomatic and supportive. Physical therapy may be beneficial for improving muscle strength and mobility. In some cases, surgery may be required to correct the position of the thumb.

Related Terms

• Adduction
• RAPSN gene
• Contractures
• Intellectual disability
• Respiratory distress

External links

• Medical encyclopedia article on Adducted thumb syndrome
• Wikipedia's article - Adducted thumb syndrome

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