Andermann syndrome
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
- Medical encyclopedia article on Andermann syndrome
- Wikipedia's article - Andermann syndrome
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