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Zpráva o onemocněních · Neurological

Dopamine Transporter Deficiency Syndrome

Whole genome sequencing reads the SLC6A3 gene for inherited changes that cause dopamine transporter deficiency syndrome, a movement disorder that usually starts in infancy with dystonia and parkinsonism.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare inherited movement disorder in which the brain cannot recycle the chemical messenger dopamine, causing parkinsonism and dystonia that usually begin in infancy. It is caused by changes in both copies of the SLC6A3 gene.

Dopamine transporter deficiency syndrome is a rare inherited movement disorder, also known as infantile parkinsonism-dystonia. Its movement problems usually begin in infancy and worsen over time, with widespread dystonia, which means sustained muscle contractions, followed by parkinsonism.

The condition is caused by loss-of-function changes in both copies of SLC6A3, which encodes the dopamine transporter. This protein takes dopamine back into nerve cells after it has been released, so the changes reduce how dopamine is recycled.

Infants often have irritability, feeding difficulties and low muscle tone at first, followed by chorea and dystonia. Over time, the slowness and stiffness typical of parkinsonism develop. Some people have a later onset with a milder and slower course, and many have relatively preserved intellect.

The condition is usually inherited in an autosomal recessive way. There is no curative treatment, but dopamine agonists have helped some people, and care focuses on movement symptoms, feeding, physical and developmental support, and treating pain.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by loss-of-function changes in both copies of SLC6A3, which encodes the dopamine transporter that takes dopamine back up into nerve cells after it is released. Characteristic clinical, laboratory and imaging findings support the diagnosis.

Příznaky a projevy

Infants typically present in the first months of life with irritability, feeding difficulty and low muscle tone, followed by a hyperkinetic movement disorder with chorea and dystonia. Over time, slowness and stiffness typical of parkinsonism develop. Less often the condition begins later in childhood or adulthood with a milder, slower course.

Co se diagnózou změní

There is no curative treatment; medicines such as dopamine agonists have helped some people, with care focused on movement symptoms, feeding, and physical and developmental support. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.

Analyzované geny

Známé také jako

DTDS

Zahrnuje 2 příbuzných podtypů ↓
  • atypical dopamine transporter deficiency syndrome
  • classic dopamine transporter deficiency syndrome
MONDO:0700117Zdroje: [1][2][3]

Proč sekvenování celého genomu

Dopamine transporter deficiency syndrome is usually inherited in a recessive way, so the family's genetic change matters for relatives. Whole genome sequencing reads SLC6A3 in one test.

Some medicines can make it worse

Drugs with anti-dopaminergic effects, such as metoclopramide and prochlorperazine, may worsen movement disorders, so they need careful consideration. Pain and discomfort can also worsen movement symptoms, so their causes are treated.

A 1 in 4 chance for each child

Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected. Genetic counselling and carrier testing of relatives are available, and prenatal testing is possible once the family's changes are known.

Reference

  1. Spaull RVV, Kurian MA, 2017. SLC6A3-Related Dopamine Transporter Deficiency Syndrome. GeneReviews
  2. Dopamine transporter deficiency syndrome. MedlinePlus Genetics
  3. SLC6A3 gene. MedlinePlus Genetics

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