Glossary

Also known as AMD (Age-related macular degeneration) usually starts to affect people in their 50s and 60s.

The condition doesn’t lead to blindness, although it affects the central vision making it difficult to carry out daily activities and recognise people’s faces.

If macular degeneration isn’t treated the condition can deteriorate over weeks, months or years.

A disorder of the body’s connective tissues which support the skeleton structure, internal organs and other tissues.

Symptoms range from mild to severe and can affect patients who are tall, suffer from heart defects, have abnormal sized limbs and a lens dislocation.

In 75% of cases the condition is usually inherited from a parent, but in 25% of cases neither parent will carry the illness and the gene is affected for the first time in the sperm or egg during reproduction.

Marfanoid–progeroid–lipodystrophy syndrome, also known as MFLS, is a constellation of symptoms similar to Marafan syndrome which can extend limbs, crowd the bone which forms your upper jaw – known as the maxilla, sometimes with a high arch in the palate as well as forming exceedingly long, thin fingers and toes – known as arachnodactyly and hypermobile joints, which means you can extend your joints easily beyond the average motion without causing pain.

The illness begins with cold-like symptoms which can go on for about ten days which develops into measles.

Measles usually last for around 7 – 10 days.

Symptoms include sneezing, runny/ blocked nose, swollen eyelids, watery eyes, tiredness, high temperature, loss of appetite, sore eyes and a greyish spots in the mouth.

A condition of the inner ear that causes sudden attacks of vertigo, tinnitus (ringing in the ear), hearing loss and pressure in the ear.

During an attack you may feel dizzy, unsteady on your feet, nausea and hear ringing, buzzing or roaring inside the ear.

The symptoms usually last between 2 to 3 hours, but can be just a few minutes.

Ménière's disease normally starts in on ear, but can spread to both over a period of time.

There is no cure for the condition although treatment is available to control vertigo, nausea and vomiting.

Meningitis is most common in babies, children and teenagers but the illness can affect anybody at any age.

If the condition isn’t treated quick enough it can become life-threatening by producing fatal blood poisoning and irreversible damage to the nerves and the brain.

A condition where the head circumference is smaller than normal which can be caused by a genetic abnormality or alcohol/ drugs consumed during pregnancy.

Signs and symptoms included delayed motor and speech function, dwarfism and coordination problems.

A severe headache which causes a throbbing pain at the front or side of the head. One in five women and one in 15 men experience migraines, which can fall into different categories including… Migraine with aura – flashing lights ‘flash’ before the pain starts. Migraine without aura – There are no warning signs and Migraine aura without headache – The symptoms are present, but the headache doesn’t develop.

The condition relates to a group of disorders which affect tissues causing a significant drop in mitochondrial DNA found in cells which produce energy and respiration.

Mitochondrial depletion syndrome is a fatal illness in babies and early childhood.

There is no cure for the condition although there are some treatments available which can reduce the symptoms.

There are only around 200 cases of Moebius Syndrome across the UK which is determined by the 6th and 7th cranial nerves controlling facial expressions.

The condition can also affect other nerves and muscles around the body which can lead to hearing loss, sensitive eyes, missing limbs, club feet, speech impediments, drooling, difficulty chewing and swallowing and being crossed eyed.

Mosaicism is caused by an error in the process of dividing body cells, known as Mitosis.

The complication causes the number of chromosomes to double to 92 before splitting back down to 46.

It’s a rare form of Down syndrome which results in an extra copy of chromosome 21.

Symptoms include elongation of the skull, wider and deeper set eyes, upturned nose, brain malfunction, kidney and cardiac abnormalities, absent malformed kneecap and a highly arched or cleft palate.

A progressive disease which attacks the nerves in the brain and the spinal cord. As the illness becomes more invasive the body weakens as the muscles waste away.
Patients with Motor neurone disease (MND) can have difficulty eating, drinking, breathing, walking and talking. These conditions can arise in any order as the illness progresses.
There is no cure for MND although the symptoms can be managed to provide the best quality of life.

A genetic condition which affects bone development.

More than 100,000 people live with MS in the UK. The lifelong condition can affect the spinal cord and/or parts of the brain impairing movement in the arms and legs as well as vision loss and a lack of balance.

The condition is more common in women and is usually detected in their 20s & 30s. The condition can also reduce the average life expectancy.

Common symptoms of Multiple Sclerosis include bladder problems, numbness, lack of co-ordination, vision impairment, fatigue and problems with learning/planning and thinking.

The symptoms can come and go or deteriorate slowly over the years.

A rare form of child abuse which involves exaggeration or fabrication by a primary carer. Munchausen by proxy (MBPS) is treated as a mental illness, sometimes it can be controlled by treatment.

In 85% of cases the mother is responsible for causing pain to the child which can include suffocation and poisoning.