Andermann syndrome

From WikiMD.org
Jump to navigation Jump to search

Andermann Syndrome

Andermann Syndrome (pronunciation: an-der-man sin-drome), also known as Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN), is a rare neurological disorder that is primarily characterized by the absence or underdevelopment of the corpus callosum, the structure that connects the two hemispheres of the brain, and peripheral neuropathy.

Etymology

The syndrome is named after Canadian neurologist, Dr. Eva Andermann, who first described the condition in the 1970s. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".

Symptoms

The symptoms of Andermann Syndrome may vary among affected individuals. However, common symptoms include motor skills impairment, muscle weakness, reduced sensation in the extremities (peripheral neuropathy), and severe intellectual disability. Some individuals may also exhibit seizures, spasticity, and scoliosis.

Diagnosis

Diagnosis of Andermann Syndrome is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests including genetic testing, neuroimaging studies, and electromyography (EMG).

Treatment

There is currently no cure for Andermann Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and medication for seizures and spasticity.

Prognosis

The prognosis for individuals with Andermann Syndrome varies. Some individuals may have a normal lifespan with supportive care, while others may experience severe complications that can be life-threatening.

See Also

External links

Esculaap.svg

This WikiMD article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski