Symptoms Of Huntington Disease
Published on Sep 30 2009, in the categories: Uncategorized
The symptoms of Huntington's disease vary from patient to patient. Still, the disease's classical pattern consists in progressive motor, cognitive and emotional deterioration. In the initial stages the changes are subtle, and the cognitive and psychological symptoms may go unnoticed, the first symptom the patient observes being represented by chorea, a classical symptom which consists in involuntary, uncontrolled, jerky, fidgety movements of the face, body and limbs. The loss of muscle control also affects masticatory muscles and the diaphragm, affecting the patient's eating habits and so, choking may occur. Speech habits may also occur due to the improper functioning of the mouth and larynx muscles. The more obvious signs of motor impairment follow in time (after about 3 years after the first clinical manifestations of the disease) and consist in rigidity, postural instability, dysphagia (difficulty in swallowing), dysarthria (slurred speech), impaired control of eye movement and poor control of the tongue, mouth muscles and diaphragm.

The behavioral changes consist in moos swings, short term memory lapses, lack of concentration and lack of interest in personal hygiene. Depression, a common psychiatric feature of Huntington's disease is not only determined by the disease but also by the impact it has on the patient's life. As the disease progresses, the patient will begin to exhibit other psychiatric symptoms such as delusions, paranoia, hallucinations, (suggesting psychosis), compulsive behavior, addictive behaviors.

It should be mentioned that in juvenile Huntington disease the seizures are also a very common feature. The difference between juvenile Huntington's disease and the typical form of the disease is that in the first one the disease has a very rapid course, with brief episodes of chorea and its main clinical feature is represents by rigidity.
Graves’ Disease Signs And Symptoms ‘etiology’
Published on Sep 30 2009, in the categories: Uncategorized
The signs and symptoms of Grave's disease are determined not only by the disease itself but also by the consequent hyperthyroidism. The most common features of the disease are: exophtalmos, pretibial myxedema, increased heart rate, fatigue, muscular weakness and symptoms related to hyperthyroidism.
Due to the damage and fibrosis of the inferior rectus muscle, the patient will develop vertical diplopia, increased intraocular pressure and intermittent double vision. In the late stages of Grave's ophtalmopathy, exophtalmos occurs (leading to an impaired eye movement and optic neuropathy and optic nerve compression). The patient's visual acuity decreases, visual field defect, loss of color vision and afferent pupilary deffect occur. In this stage, any delay in treatment may lead to permanent blindness.
The goitre and the Graves' ophtalmopaty are the only symptoms directly determined by the disease. The other symptoms, caused by the increased levels of thyroid hormones are: hypertension, tachycardia, palpitations, fatigue, irritability, decreased concentration and diminished attention span. Dyspnea (shortness of breath), muscular weakness (especially in the muscles of the limbs), insomnia, and dry, brittle hair and nails are also common.

The hyperthyroidism has a marked impact on the patient's metabolism, leading to hyperglicemia, hypokalemia, weight gain and rhabdomylosis (muscle destruction determined by the increased energy consumption and by the depletion of the muscular deposits of glycogen).
The metabolic correlations established between the body's hormonal mechanisms will also affect the reproductive organs leading to amenorrhea or oligomenorrhea, infertility, difficulty conceiving and recurrent miscarriages. In men, gynecomastia may occur.
Polycystic Ovaries Disease Symptoms
Published on Sep 29 2009, in the categories: Uncategorized
The signs and symptoms of this disorder are protean, and usually consist in weight gain or obesity, acne, amenorrhea, oligomenorrhea, infertility, oily skin, depression, hair loss and the deepening of the voice. These symptoms start manifesting usually in puberty but they may go unnoticed for years. An accurate history of regular menses (after the menarche) is important since it usually rules out the diagnosis of polycystic ovary syndrome. The menstrual abnormalities are determined by the chronic anovulation, some women having secondary amenorrhea (absence of menses for 6 months) or oligomenorrhea (infrequent periods, nine or less in a year ). Because of the anovulation, the women with this condition may have difficulties in conceiving, polycystic ovary syndrome being the most common cause of women infertility. Another consequence of anovulatory menstrual cycles is represented by dysfunctional uterine bleeding.


The women with polycystic ovary syndrome have an increased risk of developing other important disorders. Hypertension, diabetes mellitus type 2, dyslipidemia, and cancer are the most important disorders to which these women are predisposed. Most women owith this syndrome experience in some degree a form of insulin resistance and almost 30% will have problems concerning the glucidic metabolism. The risk of developing diabetes mellitus increases in time. The hypertension, combined with high levels of LDL (bad cholesterol) and high levels of fats will increase the risk of cardiovascular disease.
The anovulation and the irregular periods will affect the lining of the uterus, increasing the risk for endometrial hyperplasia and, in time for endometrial carcinoma.
Symptoms Of Wolfman Disease
Published on Sep 29 2009, in the categories: Uncategorized
Generalized congenital hypertrichosis is a very rare condition of which fewer than 75 cases have been documented. This is a genetic disease determined by the addition or deletion of DNA fragments on chromosome 17. In this form of the disease the baby presents at birth the normal lanugo hairs ( long, light colored silky hairs which grow on all embryos in the womb ) but instead of falling in the first several months after birth, the hair remains on the baby's body, except the soles and the palms and the hair growth does not reduce in time. The hair density is increased on the face and shoulders. In congenital hypertrichosis lanuginosa (a variant of the previously mentioned disorder) the hair is also lanugo type and the patients are usually normal or with mild dental malformations; but the disease's most disturbing aspect (the excessive hair growth) may reduce in time. Both this forms have in common gingival hyperplasia associated with dental malformations (fewer teeth, abnormal teeth eruption). The infants with these two diseases will aldo have a higher frequency of spina bifida.

Acquired generalized hypertrichosis is almost always a sign of an underlying or developing internal malignant process or it may be triggered by the exposure to chemical substances (in these circumstances the hair falls after the exposure ends). Acquired generalized hypertrichosis may also be caused by porphyries.
In localized congenital hypertrichosis the abnormal hairgrowth affects just one or a few sites, especially the back, ears and elbows (hypertrichosis cubiti). When affecting the back, hypertrichosis may suggest neural or spinal abnormalities. The infants with diabetic mothers will have excessive hair in the ear area.
Localized acquired hypertrichosis defines a category of transient hypertrichoses determined by a variety of causes such as trauma, sunburns, inflammation which transform the short, soft, non-pigmented hairs (vellus hairs) into coarse, pigmented terminal hairs as a response to the irritating factors. In this category are also included trichomegaly (excessive growth of the eyelashes) and Becker's nevus (excessive hair growth and pigmentation on the shoulders, determined by injuries and sunburns.)
Pancreas Disease Symptoms
Published on Sep 29 2009, in the categories: Uncategorized
Acute pancreatitis is an inflammatory disease of the pancreas which may also affect peripancreatic tissue or remote organs. The disease is usually determined by gallstones, alcohol abuse, drugs or it may be idiopathic. Severe abdominal pain located in the epigastric region and sometime radiating to the back is almost always present and in some cases it is refractory to analgesics. The pain is in many cases more intense if the patient is supine. Muscular rigidity, an enlarged, palpable pancreas and abdominal tenderness may also be observed. The patient is frequently anxious or distressed, with a mild fever and hypotension. In severe necrotising pancreatitis hemoperitoneum may lead to a bluish discoloration around the umbillicus and tissue catabolism may be reflected by a blue-red discoloration on the flanks. Almost one in four patients who once had an attack of acute pancreatitis will experience, due to alcohol or cholelitiasis a recurrence.

In chronic pancreatitis the pain varies in intensity and it may be intermittent. The pain may be exacerbated after meals leading to anorexia and weight loss. Despite of the steatorrhea (fatty stools) most of the patients do not have the symptoms of vitamin deficiency. The maldigestion, another feature of chronic pancreatitis manifests as steatorrhea, fatigue, weight loss and chronic diarrhea. Mild fever and mild abdominal tenderness may also be observed.
Hereditary pancreatitis has similar symptoms to chronic pancreatitis. The clinical features of this disorder are:pancreatic calcification, steatorrhea, and recurring severe abdominal pain attacks. The patients with this disorder have an increased risk of pancreatic carcinoma.

Pancreas enzyme insufficiency is determined by the inability of the pancreas to produce the necessary amount of digestive enzymes. This disorder is usually determined by the progressive pancreatic damage. The symptoms of this disorder are:weight loss, diarrhea and steatorrhea. Abdominal pain it is absent but in some cases it may be determined by other disorders affecting the pancreas.
The clinical features of pancreatic endocrine tumors are usually determined by the increased amount of hormones and only in the late stages the tumor itself will cause abdominal pain. Sometimes, weight loss, bleeding, fatigue and jaundice may occur.
Symptoms Of Celiac’s Disease
Published on Sep 29 2009, in the categories: Uncategorized
The signs and symptoms of the disease are determined by the intestinal damage and by the consequences of the malabsorbtion. The most usual symptoms of celiac disease are: diarrhea, vomiting, weight loss, fatigue, and abdominal distension, but even though this disease is primarily an intestinal disorder, bowel symptoms may be subtle or absent. In some cases the diagnosis may be rather based on symptoms determined by the malabsorbtion . For example in subtle disease, the adults may only complain of fatigue and their blood tests show a mild anemia and the children may have psychologiacal problems and malabsorbtion-related disturbances.
T he diarrhea is a very characteristic sign of celiac disease and it usually manifests as the presence of voluminous, discolored and malodorous stools. The cramping, bloatedness accompanied by abdominal distension (determined by the gas resulted from fermentation processes) abdominal pain and lesions on the mucous membrane lining the inner side of the cheeck are other common features of celiac disease. As the disease progresses and the intestine is more affected, lactose intolerance may occur. The gastrointestinal symptoms may be various and some patients may have a normal intestinal tranzit or even display a tendency towards constipation.

Celiac disease may lead to other intestinal disorders such as stricturing or ulcerative jejunitis or it may increase th risk of developing adenocarcinoma and lymphoma.
As a consequence of the impaired intestinal absorbtion other disturbances may also occur determined by the deficit in vitamins, calcium, and nutrients. Weight loss may occur in adults due to the insufficient amount of aminoacids, glucose and fats absorbed and in children stunted growth and pubertal delay are determined by this form of malnutrition. The malabsorbtion of calcium may lead to osteopenia, osteomalacia and osteoporosis, affecting the bone metabolism and increasing the risk of fractures. Anemia may be determined by more than one cause, all related to the impaired absorbtion function: by the malabsorbtion of iron there will occur iron deficiency anemia and the malabsorbtion of vitamin B12 and folic acid will lead to megaloblastic anemia.

At the moment the only effective treatment consists in a gluten-free diet. Nevertheless there are people with refractory disease whose condition does not improve after taking the dietary measures. In these cases the treatment with corticosteroids should be considered.
Downs Syndrome Disease Symptoms
Published on Sep 29 2009, in the categories: Uncategorized
The symptoms of Down's syndrome are usually noticed at birth but the syndrome may be identified during pregnancy by a medical procedure named amniocentesis.
The most common facial features of Down syndrome are: a flat face, a flat nasal bridge, small nose, the specific upward slant to the eyes, epicantus (the presence of a skin fold in the medial corner of the eye), small ears that usually fold at the top, abnormally small mouth (microstomia) and chin (microgenia), Brush field spots (white spots in the iris) large protuding tongue and microcephaly (abnormally small head).

An early intervention is also the key in preventing the impact of the low muscular tone on the future speaking and eating skills of the baby. Microstomia (the small mouth), accompanied by the undeveloped sinuses and the frequent respiratory infections the individuals with Down's syndrome are exposed to may lead to respiratory problems, thus leading to the baby's necessity to breathe through mouth and so, as consequence there will be encouraged the protuding tongue. This symptom, combined with hypotonia will lead to nurshing problems, since the child will not be able to eat properly and later on, there will occur problems with eating solid food.
Other features of Down's syndrome are: the Simian crease (unique palmar crease- in babies without the disease there are two palmar creases on each hand), short limbs, the lack of the distal phalanx in the little finger,flat, broad hands with short fingers, weaker or absent Monro reflexes, broad flat feet with short toes and with an abnormally large space between the big toe and the second.

Vision problems will also occur in more than 70% of children with this syndrome. The ophtalmological problems may range from myopia and hypermetropia to blocked tear duct cataracts and astigmatism.
The congenital heart defects that occur with this disorder are atrioventricular septal defect, ventricular septal defect and atrial septal defect, requiring surgery. Endocrine problems may also occur, the most frequent are represented by thyroid disorders (hypothyroidism and hyperthyroidism) but pituitary problems may occur as well thus leading to a shortage of growth hormone, which leads to an even more marked growth delay.
The gastrointestinal tract is frequently affected by many anatomical and functional abnormalities. Aganglionnic megacolon, duodenal atresia, anular pancreas, tracheo-esophageal fistula and malabsorbtion disorders are the most common gasrtointestinal problems.
Heart Disease Signs Symptoms
Published on Sep 26 2009, in the categories: Uncategorized
Ischemia, is determined by an imbalance between the heart's oxygen supply and demand. Ischemia usually manifests as chest discomfort and the reduction of the heart's pumping ability leads to fatigue and elevated intravascular pressure upstream the affected ventricle. The latter leads to an abnormal fluid accumulation, with peripheral edema, dyspnea and pulmonary congestion. Obstruction to blood flow (like, for example, the one that occurs in valvular stenosis) may determine symptoms similar to those of myocardial failure. Cardiac arrhythmias usually have a sudden onset and the signs and symptoms of this disturbances are: palpitations, syncope, dyspnea and hypotension, which may occur abruptly and may disappear as rapidly.

The patient may complain of persistent fatigue because of the reduced cardiac output. The low cardiac output will lead to an increased respiratory rate, especially in case of pulmonary venous congestion. Central cyanosis is also determined by the insufficient oxigenation and when is associated with clubbing of the fingers and toes it indicates right -to- left cardiac shunting. Cyanosis in the distal extremities accompanied by cool skin and sometimes increased sweating is usually the result of vasoconstriction in severe heart failure cases. Some disorder such as endocarditis or rheumatic fever may cause fever. Low grade fever is also common after a miocardic infarction.

Klinefelter’s Disease Symptoms
Published on Sep 26 2009, in the categories: Uncategorized
The newborns and babies with Klinefelter's syndrome have mild hypotonia, reduced muscular strength and may have a slightly slower motor development. These symptoms may go unnoticed, and Klinefelter's syndrome is suspected only if the child has other disorders such as cryptorchidism (the testis's failure to descend into the scrotum), scrotal or inguinal hernias or hypospadias (uretral birth defect) occur. During childhood, the children with this disorder tend to be taller than the children of their age, thin or with a tendency towards obesity, they may have less muscular coordination than the other children, have difficulties in learning how to write and read and their speech skills develop slower.

Infertility is a common feature of this syndrome and is determined by hypogonadism (decreased testicular endocrine function). Microorchidism(small testes) occurs frequently. The men with Klinefelter's syndrome may have normal sex lives but they have azoospermia (no sperm is created ) in 95 to 98% of the cases or oligospermia (very low levels of sperm) in up to 5% of the cases.

The social and psychological development of the teenagers with Kleinfelter's syndrome is affected by the slow development of verbal skills and their poor speech skills. In school they may have problems learning or engaging in sportive activities and have more problems with "fitting in" than other teenagers, and the may also have poor social skills. They have a higher risk of developing depression, substance abuse problems and anxiety disorders. Their emotional problems range from shyness and immaturity to anxiety and aggressivity, but most of them are more quiet, undemanding, more obedient and more helpful and less active and self confident than other boys of their age. These psychological features persist in their adult life. As adults they can have a life similar to the other men, they may have families and friends and have successful careers although they may have to make more efforts in order to performs tasks that require reading or writing.
Alzheimer’s Disease Early Symptoms
Published on Sep 26 2009, in the categories: Uncategorized
The early symptoms of Alzheimer's are usually mistaken as the result of stress or are considered to be age-related. The most common early symptom tends to be memory lapses; the patient starts forgetting dates, important events, things he recently learned or information he recently received. As a consequence, the patient starts using memory aides(agenda, notebooks, reminder notes, electronic devices) in order to keep up with his/her usual activities or starts relying on his/her family help.
Another common sign is the fact that many people with Alzheimer's start having language problems and problems related to semantic memory. They may have problems in starting or following casual conversations, they may start forgetting the names of common objects, of friends and even family and they sometimes start using the definition of an object instead of its name.
The abstract thinking is also impaired, affecting abilities such as working with numbers, the ability to develop plans and to follow them and usually simple tasks such as following recipes, keeping track of household expenses and bills become much harder and take longer than prior to the onset of the disease. Performing familiar task may also be more difficult and so there may occur problems at work, at home or in social contexts.
Vision problems may be an early symptom of Alzheimer's disease when the patient starts having problems in reading a simple text, appreciating the colors, the contrasts or the distances. The people with Alzheimer's disease may also experience disorientation; they may become lost in otherwise familiar places, they may not know where they are , why, when and how did they get there and they may also lose track of time, dates and sometimes even seasons.
Misplacing an object is something that happens to anyone but in Alzheimer's disease the patients usually put important objects in odd and unusual places and afterwords they are unable to find them. In some cases they may even start accusing the others of stealing their things (especially keys, wallets, valuable items). As the disease progresses, this feature's frequency increases.

Judgment is also affected by Alzheimer's. The patient may spend large amounts of money for things they will never use, present a reduced interest in housekeeping or personal hygiene.
Withdrawal from both social and professional activities is not only a consequence of the embarrassment caused by the features mentioned earlier but also an important psychiatric symptom. The patient's withdrawal from his usual interest is accompanied by forgetting how to complete activities such as games, hobbies, losing interest in social contacts or business and an increased need for sleep. Personality and mood changes occur in all the people with Alzheimer's disease. They may become irritable, depressed, anxious, suspicious, confused and grumpy, have rapid mood swings or be dependent of one of the family members. Aggressivity and stubbornness are not unusual , especially if the patient is outside his/her comfort zone.
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