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Zpráva o onemocněních · Neurological

DCC-Related Mirror Movements and Agenesis of the Corpus Callosum

Whole genome sequencing reads the DCC gene for inherited changes that can cause congenital mirror movements, where one hand's movements are copied by the other, or a missing band of nerve fibres between the two halves of the brain.

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

An inherited condition in which movements of one hand are involuntarily copied by the other (mirror movements), and/or the band of nerve fibres joining the two halves of the brain is missing. It is caused by a change in one copy of DCC.

Congenital mirror movements are involuntary movements on one side of the body that copy voluntary movements on the other side. They usually start in childhood, mainly affect the hands and fingers, and tend to persist through life without getting worse. Most people otherwise develop normally, although some also have agenesis of the corpus callosum, which means the band of nerve fibres joining the two halves of the brain is missing or underdeveloped.

The condition is caused by a change in one copy of the DCC gene. DCC makes a receptor that guides nerve fibres across the midline of the brain and spinal cord during development. Not everyone who carries the change shows signs, so some people have no symptoms. The change is usually inherited from a parent, who may or may not be affected.

School adjustments, such as extra time in examinations and less handwriting, can help, and standard therapy is used for any neurocognitive difficulties. Agenesis of the corpus callosum may be found on a brain scan and cause no symptoms, or be linked with learning difficulties. Because the change can be present without signs, genetic counselling and family testing are offered to relatives.

Onemocnění, které analyzujeme

Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Autozomálně dominantní

Caused by a change in one copy of DCC, a receptor that guides nerve fibres across the midline of the brain and spinal cord during development. Penetrance is incomplete, so some people who carry the change have no signs.

Příznaky a projevy

Congenital mirror movements, mainly of the hands and fingers, which are present from childhood and persist through life; most people have otherwise normal development. Others have agenesis of the corpus callosum, which may be found on a brain scan and cause no symptoms or be associated with learning difficulties. Less often both features occur together.

Co se diagnózou změní

School adaptations, such as extra time in examinations and less handwriting, can help, and standard therapy is used for any neurocognitive difficulties. Because penetrance is incomplete, the change is often inherited from a parent who may have no symptoms, so genetic counselling and family testing are offered.

Analyzované geny

Známé také jako

bimanual synergia; DCC familial congenital mirror movements; familial congenital mirror movements caused by mutation in DCC; mirror movements 1; mirror movements, congenital; MRMV1

MONDO:0100515OMIM 157600Zdroje: [1][2][3]

Proč sekvenování celého genomu

This condition is often inherited from a parent who may have no symptoms, so a finding can matter for the whole family. Whole genome sequencing reads the DCC gene in the same test.

A parent may have no symptoms

Because not everyone who carries a DCC change shows signs, a parent with no symptoms can still pass it on. Each child of a person with the change has a 1 in 2 chance of inheriting it, though not every child who inherits it will show signs.

School adjustments can help

Extra time in examinations and less handwriting can help with mirror movements at school. Avoiding complex two-handed tasks and sustained repetitive hand use can also reduce pain or discomfort in the arms, and stigmatising children should be avoided.

Reference

  1. Méneret A, Trouillard O, Dunoyer M, Depienne C, Roze E, 2015. Congenital Mirror Movements. GeneReviews
  2. Congenital mirror movement disorder. MedlinePlus Genetics
  3. Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS et al., 2018. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Human mutation

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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