Warburg Micro syndrome
Warburg Micro Syndrome
Warburg Micro Syndrome (pronounced: /ˈwɔːrbɜːrg ˈmaɪkroʊ ˈsɪndroʊm/), also known as Micro Syndrome, is a rare genetic disorder characterized by multiple developmental abnormalities and neurological impairments. The syndrome is named after Danish ophthalmologist Mette Warburg who first described it in 1993.
Etymology
The term "Warburg Micro Syndrome" is derived from the name of the Danish ophthalmologist Mette Warburg, who first described the condition, and the term "micro", which is derived from the Greek word "mikros", meaning small. This refers to the microcephaly, a common symptom of the syndrome.
Symptoms
Warburg Micro Syndrome is characterized by several symptoms including microcephaly (abnormally small head size), microphthalmia (abnormally small eyes), optic atrophy (degeneration of the optic nerve), intellectual disability, and spastic quadriplegia (severe muscle stiffness and spasms). Other symptoms may include hypotonia (low muscle tone), seizures, and various endocrine abnormalities.
Genetics
Warburg Micro Syndrome is caused by mutations in one of four genes: RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20. These genes are involved in the regulation of intracellular trafficking, a process that transports proteins and other molecules within cells. The syndrome is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Warburg Micro Syndrome is based on clinical examination, genetic testing, and the presence of characteristic symptoms. Magnetic resonance imaging (MRI) may also be used to identify characteristic brain abnormalities.
Treatment
There is currently no cure for Warburg Micro Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and management of endocrine abnormalities.
See also
External links
- Medical encyclopedia article on Warburg Micro syndrome
- Wikipedia's article - Warburg Micro syndrome
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