Hereditary multiple exostoses Health Dictionary

A chronic, usually progressive disease of the central nervous system, with the gradual patchy disorganization of the protective myelin cells. It is almost certainly an auto-immune disorder, although viral infections sometimes seem to initiate the condition, and physical trauma is often seen to anomalously precede the first symptoms.... multiple sclerosis

The individual with this psychiatric disorder has two or more di?erent personalities, often contrasting. The dominant personality at the time determines the behaviour and attitude of the individual, who customarily seems not to know about the other personality – or personalities. The switch from one personality to another is abrupt and the mental condition of the di?ering personalities is usually normal. It is possible that child abuse is a factor in the disorder, which is treated by psychotherapy. The classic multiple personality was the ?ctional form of Dr Jekyll and Mr Hyde.... multiple personality disorder

An inherited disorder in which there are a large number of unusually small, round red blood cells (spherocytes) in the circulation.

These abnormal red cells are readily broken up when blood passes through the spleen.

At times, the rate of red cell destruction exceeds the rate at which new cells can be made in the bone marrow, leading to symptoms of anaemia.

Other symptoms include jaundice and enlargement of the spleen.

Occasionally, crises occur (usually triggered by infection) in which all symptoms worsen.

Gallstones are a frequent complication.

Splenectomy usually leads to permanent improvement.... hereditary

Twins occur about once in 80 pregnancies, triplets once in 6,000, and quadruplets about once in 500,000. Quintuplets are exceedingly rare. Such is the natural state of a?airs.

In recent years, however, the position has been altered by the introduction of the so-called fertility drugs, such as CLOMIPHENE, and human menopausal gonadotrophin which, through the medium of the PITUITARY GLAND, stimulate the production of ova (see OVUM). Their wide use in the treatment of INFERTILITY has resulted in an increase in the number of multiple births, a recognised hazard of giving too large a dose.

Twins may be binovular or uniovular. Binovular, or fraternal, twins are the result of the mother’s releasing two ova within a few days of each other and both being fertilised by separate spermatozoa (see SPERMATOZOON). They both develop separately in the mother’s womb and are no more alike than is usual with members of the same family. They are three times as common as uniovular, or identical, twins, who are developed from a single ovum fertilised by a single spermatozoon, but which has split early in development. This is why they are usually so remarkably alike in looks and mental characteristics. Unlike binovular twins, who may be of the same or di?erent sex, they are always of the same sex.

So far as fraternal, or binovular, twins are concerned, multiple pregnancy may be an inherited tendency; it certainly occurs more often in certain families, but this may be partly due to chance. A woman who has already given birth to twins is ten times more likely to have another multiple pregnancy than one who has not previously had twins. The statistical chance of a third pair of twins is 1:512,000. Identical twins do not run in families.

The relative proportion of twins of each type varies in di?erent races. Identical twins have much the same frequency all over the world: around 3 per 1,000 maternities. Fraternal twins are rare in Mongolian races: less than 3 per 1,000 maternities. In Caucasians they occur two or three times as often as identical twins: between 7 (Spain and Portugal) and 10 (Czech and Slovak Republics and Greece) per 1,000 maternities. They are more common in Afro-Caribbeans, reaching 30 per 1,000 maternities in certain West African populations.

Rarely, uniovular twins may not develop as separate individuals, being physically joined in some way. They are called conjoined or (traditionally) Siamese twins. Depending on the extent of common structures shared by the infants – this ranges from a common umbilical cord to twins with conjoined heads or a common liver – the infants may be successfully separated by surgery. (See CONJOINED TWINS.)

Parents of twins, triplets, etc. can obtain advice and help from the Twins and Multiple Births Association (TAMBA).... multiple births

More than one risk factor for the development of a disease or other outcome is present and their combined presence results in an increased risk. The increased risk may be due to the additive effects of the risks associated with the separate risk factors, or to synergism.... multiple risk / causation

Also called myelomatosis, multiple myeloma is a rare, cancerous condition in which plasma cells in the bone marrow proliferate uncontrollably and function incorrectly. It occurs in middle- to old age.

Plasma cells are a type of B-lymphocyte that produce immunoglobulins, which help protect against infection. In multiple myeloma, the proliferating plasma cells produce excessive amounts of one type of immunoglobulin, while production of other types is impaired. This makes infection more likely.Proliferation of the abnormal cells causes pain and destroys bone tissue.

Affected vertebrae may collapse and compress nerves, causing numbness or paralysis. Blood calcium levels increase as bone is destroyed, as may the level of one or more immunoglobulins. These changes in the blood may damage the kidneys, leading to kidney failure. There may also be anaemia and a tendency for abnormal bleeding.

The disease is diagnosed by a bone marrow biopsy, by blood tests or urinalysis, and by X-rays. Treatment includes the use of anticancer drugs, radiotherapy, and supportive measures, including blood transfusions, antibiotic drugs, and analgesic drugs.... multiple myeloma

A rare disorder in which a person has 2 or more distinct personalities, each of which dominates at different times. The personalities are usually very different from each other.... multiple personality

See pregnancy, multiple.... multiple pregnancy

See multiple myeloma.... myeloma, multiple

The presence of more than 1 fetus in the uterus. Multiple pregnancy can occur if 2 or more ova (eggs) are fertilized at the same time, or if a single fertilized egg divides early in development.

Twins occur in about 1 in 80 pregnancies, triplets in about 1 in 8,000, and quadruplets in about 1 in 73,000.

Multiple pregnancies are more common in women who are treated with fertility drugs or if a number of fertilized ova are implanted during in vitro fertilization.... pregnancy, multiple

Multiple sclerosis is a progressive disease of the BRAIN and SPINAL CORD, which, although slow in its onset, in time may produce marked symptoms such as PARALYSIS and tremors (see TREMOR), and may ultimately result in a severely disabled invalid. The disorder consists of hardened patches, from the size of a pin-head to that of a pea or larger, scattered here and there irregularly through the brain and spinal cord. Each patch is made up of a mass of the CONNECTIVE TISSUE (neuroglia), which should be present only in su?cient amount to bind the nerve-cells and ?bres together. In the earliest stage, the insulating sheaths (MYELIN) of the nerve-?bres in the hardened patches break up, are absorbed, and leave the nerve-?bres bare, the connective tissue being later formed between these.

Cause Although this is one of the most common diseases of the central nervous system in Europe – there are around 50,000 affected individuals in Britain alone – the cause is still not known. The disease comes on in young people (onset being rare after the age of 40), apparently without previous illness. The ratio of women-to-men victims is 3:2. It is more common in ?rst and second children than in those later in birth order, and in small rather than big families. There may be a hereditary factor for MS, which could be an autoimmune disorder: the body’s defence system attacks the myelin in the central nervous system as if it were a ‘foreign’ tissue.

Symptoms These depend greatly upon the part of the brain and cord affected by the sclerotic patches. Temporary paralysis of a limb, or of an eye muscle, causing double vision, and tremors upon exertion, ?rst in the affected parts, and later in all parts of the body, are early symptoms. Sti?ness of the lower limbs causing the toes to catch on small irregularities in the ground and trip the person in walking, is often an annoying symptom and one of the ?rst to be noticed. Great activity is shown in the re?ex movements obtained by striking the tendons and by stroking the soles of the feet. The latter re?ex shows a characteristic sign (Babinski sign) in which the great toe bends upwards and the other toes spread apart as the sole is stroked, instead of the toes collectively bending downwards as in the normal person. Tremor of the eye movements (nystagmus) is usually found. Trembling handwriting, interference with the functions of the bladder, giddiness, and a peculiar ‘staccato’ or ‘scanning’ speech are common symptoms at a later stage. Numbness and tingling in the extremities occur commonly, particularly in the early stages of the disease. As the disease progresses, the paralyses, which were transitory at ?rst, now become con?rmed, often with great rigidity in the limbs. In many patients the disease progresses very slowly.

People with multiple sclerosis, and their relatives, can obtain help and guidance from the Multiple Sclerosis Society. Another helpful organisation is the Multiple Sclerosis Resources Centre. Those with sexual or marital problems arising out of the illness can obtain information from SPOD (Association to Aid the Sexual and Personal Relationships of People with a Disability). (See APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELFHELP.)

Treatment is di?cult, because the most that can be done is to lead a life as free from strain as possible, to check the progress of the disease. The use of INTERFERON beta seems to slow the progress of MS and this drug is licensed for use in the UK for patients with relapsing, remitting MS over two years, provided they can walk unaided – a controversial restriction on this (expensive) treatment. CORTICOSTEROIDS may be of help to some patients.

The NATIONAL INSTITUTE FOR CLINICAL EXCELLENCE (NICE) ruled in 2001 that the use of the drugs interferon beta and glatiramer acetate for patients with multiple sclerosis was not cost-e?ective but recommended that the Department of Health, the National Assembly for Wales and the drug manufacturers should consider ways of making the drugs available in a cost-e?ective way. Subsequently the government said that it would consider funding a ‘risk-sharing’ scheme in which supply of drugs to patients would be funded only if treatment trials in individuals with MS showed that they were e?ective.

The Department of Health has asked NICE to assess two CANNABIS derivatives as possible treatments for multiple sclerosis and the relief of post-operative pain. Trials of an under-thetongue spray and a tablet could, if successsful, lead to the two drugs being available around 2005.

It is important to keep the nerves and muscles functioning, and therefore the patient should remain at work as long as he or she is capable of doing it, and in any case should exercise regularly.... multiple sclerosis (ms)

See spherocytosis, hereditary.... hereditary spherocytosis

the skeletal abnormalities, collectively, of *pseudohypoparathyroidism. These include short stature, abnormally short fingers and toes (particularly involving the fourth and fifth metacarpals and metatarsals), and soft-tissue calcification. [F. Albright (1900–69), US physician]... albright’s hereditary osteodystrophy

(HNPCC, Lynch syndrome) an inherited disorder in which there is an increased incidence of colorectal *polyp formation, although to a lesser extent than in familial adenomatous *polyposis (FAP). HNPCC has also been associated with other types of tumour, particularly ovarian and endometrial tumours. This increased risk is due to inherited mutations that impair DNA mismatch repair.... hereditary nonpolyposis colorectal cancer

a group of rare inherited disorders characterized by recurrent attacks of fever and inflammation in the absence of infection. They include familial Mediterranean fever (see polyserositis), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), and the cryopyrin-associated periodic syndrome (CAPS). Causative gene mutations have been identified.... hereditary periodic fever syndromes

(MEN) see MENS.... multiple endocrine neoplasia

(MODS, multi-organ failure, multiple organ failure, MOF) a common cause of death following severe injury, overwhelming infection, or immune deficiency states.... multiple organ dysfunction syndrome

(MSA) a condition that results from degeneration of cells in the *basal ganglia (resulting in *parkinsonism), the *cerebellum (resulting in *ataxia), the *pyramidal system, and the *autonomic nervous system (resulting in symptoms of autonomic failure, such as postural hypotension).... multiple system atrophy