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Myoclonus Dystonia
Short Description : SGCE Mutation Analysis for Myoclonus Dystonia


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


Referral Requirements

Important Note:

Requires clear diagnostic referral through Neurology or Genetic Services.

Predictive/carrier testing through Genetic Services only.

Contacts:

Genetic Health Service NZ can be contacted on 0800 476 123.

Neurology can be contacted on (09) 307 4949 ext. 25662.

 


Specimen Collection
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood

Note:

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.


Turnaround Time: Within 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz




Background Information

Myoclonus-dystonia is a movement disorder characterised by a combination of rapid, brief muscle-contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). The myoclonic jerks most often affect the neck, trunk and upper limbs with less common involvement of the legs. Non-motor features like depression and personality disorders also exist. Symptom onset is usually in childhood or early adolescence but ranges from six months to 38 years. Myoclonus-dystonia is inherited in an autosomal dominant manner. Affected individuals usually have a normal active life span. Genetic imprinting is observed in Myoclonus dystonia patients with almost all children who inherit the mutation from their fathers developing symptoms, while only approximately 10% of children who inherit the mutation from their mothers will develop symptoms.

The SGCE gene is a member of a gene family that also included alpha, beta, gamma, and delta sarcoglycans. In muscles, these genes encode transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix. It is speculated that the disease is due to the loss of function of the protein epsilon-sarcoglycan.

Mutations in the SGCE gene, which encodes the protein epsilon-sarcoglycan, are associated with most cases of familial Myoclonus dystonia tested to date. This locus carries the designation DYT11 (7q21).

For more information about the Molecular Genetics service:

Molecular Genetics information page


Last updated at 15:49:04 22/03/2021