Adrenal hypoplasia - mental retardation - muscular dystrophy

What is Adrenal hypoplasia - mental retardation - muscular dystrophy?

Adrenal hypoplasia - mental retardation - muscular dystrophy is a rare disease. It is also known as Oregon eye disease.

The association between Duchenne muscular dystrophy, congenital adrenal hypoplasia, mental retardation and glycerol kinase deficiency is well recognised. Three sibs were described by Renier et al., (1983). Affected individuals presumably have extended deletions around the Duchenne locus. Petrykowski et al., (1982) described two affected brothers with a similar combination associated with megalocornea, chronic constipation and terminal bladder ectasia. It is not certain whether detailed banding studies of chromosomes were carried out. There could possibly be genes for the additional features seen in these brothers around the Duchenne locus.Fries et al., (1993) reported two mentally retarded females who were heterozygous for microdeletions at Xp21, associated with DMD, adrenal hypoplasia, glycerol kinase deficiency and mental retardation in other male family members.
Pillers et al., (1993) studied five patients and found various eye abnormalities including ocular hypopigmentation, strabismus, myopia, astigmatism and symptomatic night blindness. The scotopic b wave of the ERG is reduced and the dark apdated cone b wave may also be mildly reduced (Jensen et al., 1995). Pillers et al., (1993) suggested a deletion of a gene at Xp21 and named the phenotype Oregon eye disease. Dark adaptation is normal.
Scheuerle et al., (1995) suggests that there is a characteristic facial appearance in this condition including an hourglass appearance to the middle of the face, hypertelorism, rounded palpebral fissures and a downturned mouth. Unfortunately the photographs of the case they presented did not seem to show these features.

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* This information is courtesy of the L M D.

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What gene changes cause Adrenal hypoplasia - mental retardation - muscular dystrophy?

The syndrome is inherited in the following inheritance pattern/s:

X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Adrenal hypoplasia - mental retardation - muscular dystrophy?

The typical symptoms of the syndrome are:

How does someone get tested for Adrenal hypoplasia - mental retardation - muscular dystrophy?

The initial testing for Adrenal hypoplasia - mental retardation - muscular dystrophy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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