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Disability Glossary

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Medical Conditions

A medical condition is a temporary or permanent condition that may be hereditary, genetically acquired or of unknown origin. The condition may not be obvious or readily identifiable to others, yet may be mildly or severely debilitating and may result in fluctuating levels of general health and sicknes and/ or periods of hospitalisation. Examples of medical conditions include, but are not limited to: HIV/ AIDS, cancer, chronic fatigue syndrome, Crohn’s disease, cystic fibrosis, asthma, diabetes and multiple sclerosis.

Menkes disease

Menkes disease is caused by a defective gene that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may also be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

Mental Illness or Disorder

A mental illness/disorder is a diagnosable illness that significantly interferes with a person’s social abilities. Mental illness and associated disorders are of different types and degrees of severity and include depression, anxiety, substance abuse disorders and psychosis. Anxiety disorders are characterised byextreme anxiety. Mood disorders are characterised by severe swings in mood. Psychotic disorders are characterised by hallucinations, delusions and sometimes paranoia. Personality and disruptive disorders are characterised by significant impairment in social, educational or occupational functioning.

Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time. Causes, incidence, and risk factors

MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder, and other organs. In particular, the chemicals damage the protective sheaths that surround nerve cells.

The disease is passed down through families (inherited). You must get a copy of the defective gene from both your parents to have the disease. Parents can each have the defective gene, but not have MLD. A person with one defective gene is called a "carrier."

Children who inherit only one defective gene from one parent will be a carrier, but usually will not develop MLD. When two carriers have a child, there is a 25% chance that the child will get both genes and have MLD.

MLD occurs in about 1 in 40,000 people. There are three forms of the disease. They are based on when the symptoms begin:

Late infantile MLD symptoms usually begin by ages 1 - 2.

Juvenile MLD symptoms usually begin between ages 4 and 12.

Adult (and late-stage juvenile MLD) symptoms may occur between age 14 and adulthood (over age 16), but may begin as late as the 40s or 50s.