Stimmler syndrome

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Autosomal recessive - en

Stimmler syndrome is a rare genetic disorder characterized by a combination of neurological and developmental abnormalities. The syndrome is named after the physician who first described it. The exact genetic cause of Stimmler syndrome is not well understood, and it is considered a part of a group of disorders known as neurodevelopmental disorders.

Presentation[edit | edit source]

Individuals with Stimmler syndrome typically present with a range of symptoms that may include:

Diagnosis[edit | edit source]

The diagnosis of Stimmler syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing may be used to rule out other conditions with similar presentations. Magnetic resonance imaging (MRI) of the brain may reveal structural abnormalities that support the diagnosis.

Management[edit | edit source]

There is no cure for Stimmler syndrome, and treatment is symptomatic and supportive. Management strategies may include:

Prognosis[edit | edit source]

The prognosis for individuals with Stimmler syndrome varies depending on the severity of symptoms. Early intervention and supportive therapies can improve the quality of life for affected individuals.

Related Pages[edit | edit source]

See Also[edit | edit source]


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Contributors: Prab R. Tumpati, MD