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SGCE gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SGCE gene

The SGCE gene provides instructions for making the epsilon-sarcoglycan protein and is associated with the movement disorder myoclonus-dystonia.

Normal Function

The SGCE gene provides instructions for making a protein called epsilon (ε)-sarcoglycan, whose function is unknown. The ε-sarcoglycan protein is found within the outer membrane of cells in tissues throughout the body, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. Researchers suspect that in the brain, the ε-sarcoglycan protein plays a role in the functioning of synapses, which are the connections between neurons where cell-to-cell communication occurs.

People inherit one copy of most genes from their mother (the maternal copy) and one copy from their father (the paternal copy). Both copies are typically active, or "turned on," in cells. However, only the paternal copy of the SGCE gene is active. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.

Health Conditions Related to Genetic Changes

Myoclonus-dystonia

More than 110 mutations in the SGCE gene have been found to cause myoclonus-dystonia, which is a movement disorder characterized by involuntary muscle twitches in the neck, torso, and arms (myoclonus). Most of these mutations lead to an abnormally short, nonfunctional ε-sarcoglycan protein that is quickly broken down. Other mutations prevent the protein from reaching the cell membrane where it is needed. This lack of functional protein seems to affect the regions of the brain involved in coordinating and controlling movements (the cerebellum and basal ganglia, respectively) and leads to the involuntary movements characteristic of myoclonus-dystonia.

Myoclonus-dystonia occurs when mutations affect the paternal copy of the SGCE gene. More than 95 percent of individuals who inherit an SGCE gene mutation from their mothers do not show signs or symptoms of the condition. Rarely, individuals who inherit an SGCE gene mutation from their mothers will develop features of myoclonus-dystonia.

Other Names for This Gene

  • DYT11
  • ESG
  • sarcoglycan, epsilon
  • SGCE_HUMAN

Frequently Asked Questions

Diagnosis is based on clinical features (involuntary muscle twitches, dystonia) and confirmed by genetic testing that identifies pathogenic variants in SGCE. Whole‑gene sequencing or targeted mutation panels are used; a copy‑number analysis may be added if a deletion is suspected. Neuroimaging is usually normal but may be performed to rule out other causes.
Because the SGCE gene is paternally expressed, a mutation in the paternal copy is needed for disease. If you carry a pathogenic mutation on your paternal allele, each child has a 50 % chance of inheriting that allele. If the mutation is on your maternal allele, it will not be expressed, so the risk is effectively zero. Genetic counseling and testing of the specific allele are recommended before planning a family.
First‑line therapy often includes benzodiazepines or clonazepam to reduce myoclonus. If symptoms persist, anticholinergic agents, levodopa, or deep brain stimulation of the globus pallidus internus may be considered. Physical therapy and occupational therapy can help maintain function. Treatment is individualized and may require trial and error.
voiding caffeine, alcohol, and sleep deprivation can reduce triggers. Regular exercise and stress‑reduction techniques (yoga, meditation) may improve control. Some patients benefit from low‑dose antiepileptic drugs such as levetiracetam. Discuss any new medication with a neurologist familiar with movement disorders.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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