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Glossary of terms used on this site

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Term Definition
facioscapulohumeral muscular dystrophy

Muscular dystrophy (MD) is a genetic (inherited) condition that gradually causes the muscles to weaken. Facioscapulohumeral MD affects the muscles in the face (facio), shoulders (scapula) and upper arm (humeral). This can affect both sexes. Symptoms start between 10-40 years of age and progress slowly.

Factor IX and haemophilia B

Haemophilia is a disorder of the blood-clotting system. Normally when you cut yourself your blood plugs the wound by changing from a liquid to a solid and forming a blood clot.

Factor VIII and haemophilia A

Haemophilia is a disorder of the blood-clotting system. Normally when you cut yourself your blood plugs the wound by changing from a liquid to a solid and forming a blood clot.

Familial adenomatous polyposis

An inherited condition in which numerous polyps (growths that protrude from mucous membranes) form on the inside walls of the colon and rectum. The presence of multiple polyps increases the risk for colorectal cancer. Also called familial polyposis.

Familial hypercholesterolaemia

An inherited condition characterised by a high blood LDL (low density lipoprotein) level and a greatly increased risk of coronary heart disease at an early age. FH occurs in approximately 1 in 500 people and is inherited in an autosomal dominant pattern.

family tendency to deafness

Hearing loss can occur in a small percentage (approx. 5%) of individuals with CMT, but deafness may be unrelated as it appears to be in this family.

Fanconi anaemia

Fanconi anaemia (FA) is a rare, cancer-predisposing disorder manifested by:

fibrillin

Fibrillin is a protein that helps give your connective tissue elasticity to help it move and flex; strength to help it support organs and other parts of your body.Most people have lots of fibrillin in their bones, aorta (main artery) and eye tissue.

FISH

A technique used to identify the presence of specific chromosomes or chromosomal regions. In clinical use, this is usually to detect those syndromes where submicroscopic pieces of DNA are missing - for instance Williams syndrome.

fluorescence in situ hybridisation

Fluorescence in situ hybridisation (FISH) is a technique used to identify the presence of specific chromosomes or chromosomal regions. In clinical use, this is usually to detect those syndromes where submicroscopic pieces of DNA are missing - for instance Williams syndrome.

Fosamax

Fosamax is a medicine which is used for osteoporosis in post-menopausal women and people who are at risk of developing osteoporosis such as those who take corticosteroids over a long time.

Fragile X syndrome

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation. Usually, males are more severely affected than females.

FSH

Muscular dystrophy (MD) is a genetic (inherited) condition that gradually causes the muscles to weaken. Facioscapulohumeral (FSH) muscular dystrophy affects the muscles in the face (facio), shoulders (scapula) and upper arm (humeral). This can affect both sexes. Symptoms start between 10-40 years of age and progress slowly.

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