Wilson's disease - another mystery of our genes - manifestations and forms

August 23, 2009

  • Wilson's disease - another mystery of our genes
  • Manifestations and forms

How does Wilson's disease - Konovalova

The disease begins in childhood or young age and has a chronic progressive course. Often the appearance of symptoms of nervous system disorders precede the liver and gastrointestinal disorders: jaundice Jaundice - if the eyes are shining suspiciously  Jaundice - if the eyes are shining suspiciously
 , Right upper quadrant pain, disorders of the chair. At the same time, the stronger the liver suffers, the earlier starts and faster the disease.

From the nervous system appear a variety of involuntary movements of the limbs and trunk, muscle stiffness, impaired speech, temper tantrums, and sometimes mental illness.

A particular feature of the disease is the appearance at the periphery of the cornea greenish brown pigment containing copper, is called symptom Kaiser-Fleischer. Sometimes also noted a yellowish-brown coloration of the skin.

Another sign of the disease is bleeding gums How to prevent bleeding gums: important rules  How to prevent bleeding gums: important rules
   and nosebleeds - a result of stagnation of blood in the capillaries. Stagnation of blood is also a marble color.

Intoxication (poisoning of the body metabolic products) causes pain in the joints Joint pain - how to understand what is going on?  Joint pain - how to understand what is going on?
 . The bones become fragile and brittle due to lack of calcium (osteoporosis).

One-third of patients with these symptoms are combined with changes in the liver. In some cases, such changes can only be detected by the laboratory method.

 Manifestations and forms | Wilson's disease - another mystery of our genes

The forms of the disease

There are five forms of Wilson disease Wilson's disease: the metabolism of copper  Wilson's disease: the metabolism of copper
   - Konovalova: abdominal, early, tremor, rigidity, tremor, extrapyramidal-cortical.

When the abdominal shape indicated severe liver damage leading to the death of a patient before the appearance of symptoms of the nervous system. Sick children often this form.

An early form begins in childhood and is characterized by a rapid current. This dominates stiffness, violent movement. A person has a kind of frozen in a grimace. These fuzzy, characterized by convulsive laughter and crying, seizures, explosions of irritation, a decrease of intelligence.

Tremor-rigid forms begins in adolescence and occurs more often than others. Proceeds it is somewhat slower than the other forms, with remissions (states without exacerbation) and impairments. It appears both stiffness and tremors, increasing muscle tension, movement and excitement. Trembling seizes limbs, torso and head.

Shaking shape begins at the age of 20-30 years old, slow, among the signs of the disease prevails shake.

Extrapyramidal-cortical form occurs less often than other forms, but runs hard. At the forefront signs of brain damage from seizures, paresis (temporary immobilization of certain parts of the body) and severe intellectual disabilities.

Treatment subject in lifelong drug having medsnizhayuschim action - d-penicillamine. If treatment is initiated in a timely manner, the development of the disease can be halted. In advanced cases, this therapy does not help.

Be sure to also prescribed vitamin and mineral supplements and a diet that excludes foods with a high content of copper, for example, liver, fish, mushrooms.

Remember, Wilson's disease is treated only in the early stages!

  Galina Romanenko

Stuttering - when you need a comprehensive approach - Causes

April 18, 2010

  • Stuttering - when you need a comprehensive approach
  • Causes

Stuttering and its causes

Stuttering - a violation of the rhythm of speech, hinders communication with other people. It is accompanied by halting stuttering man, stop, repetition of individual sounds, syllables, words. They also tend to the introduction of speech-plus words (eg, "well", "here", "mean"). For people suffering from stuttering, characterized by the presence of concomitant speech movements (nods, twitches, zazhmurivany swinging), and the substitution of "difficult" words "light" (so-called tricks), avoidance of difficult speech situations.

Among the causes of stuttering is most important genetic predisposition, the effect of various harmful factors on the fetus during the mother's pregnancy, a variety of diseases and trauma in early childhood. Stuttering is more common in men than in women.

At the heart of stuttering is entrenched painful reflex (the body's response to certain effects), which developed as a result of trauma to the general neurotic background.

 Causes | Stuttering - when you need a comprehensive approach

Basic features and types of stuttering

This stuttering person, especially in a situation of anxiety or expectations occurs on a background of rhythm disturbances of breathing, rapid heartbeat, redness or blanching face, sweating and so on. The severity of all of these phenomena in some cases reflect the severity of their own speech defect, while others are closely dependent on the emotional state of patients in speech situations. There are two types of stuttering - evolutionary and symptomatic or secondary.

Evolutionary stuttering occurs during the formation of speech - from two to five years. Depending on whether it occurs on the basis of neurotic or background of organic brain damage (in violation of its buildings), distinguish between neurotic and neurosis stuttering.

Evolutionary stuttering can have both acute and gradual onset. Often the appearance of the first stumbling in speech is preceded by a general weakening of the body after an illness (such as infections) and some neurotic disorders (sleep disorders Dreams: how to understand our dreams  Dreams: how to understand our dreams
 , Tearfulness, fearfulness, and so on). In such cases, it is enough to sudden changes in environment, the appearance of sharp sounds and so on to the child in question appear smoothly.

Symptomatic (secondary) stuttering occurs in various types of speech pathology and in various diseases - traumatic brain injuries, epilepsy and so on.

 Causes | Stuttering - when you need a comprehensive approach

The neurotic stuttering

Neurotic or logoneurosis stuttering usually begins after the startle response in children susceptible, prone to neurotic reactions. Voice spasms thus usually grow, and with them grow and neurotic changes: there are obsessive fears, irritability, weakness, fatigue, sleepwalking, bedwetting Enuresis or urinary incontinence - how not to run a disease?  Enuresis or urinary incontinence - how not to run a disease?
   (children wet the bed). With age speech logoneurosis complicated tricks, associated movements and the growing fear of speech.

Usually 11-13 years the child is aware of the speech defect, he formed the fear of speech and indicated a strong desire to avoid difficult situations speech. For 15-16 years as stuttering and obschenevroticheskie disorders are most pronounced, which is reflected in the general health and social adaptation of patients. The impact of unfavorable factors and the lack of timely treatment, particularly in the early stages of the development of stuttering, may contribute to severe neurotic disorders with a growing sense of inferiority. In this speech cramps and neurotic symptoms are formed and modified heavier (pathological) personality traits: irritable weakness, excessive sensitivity and so on.

 Causes | Stuttering - when you need a comprehensive approach

Neurosis stuttering

This type of stuttering usually has a gradual onset and occurs at a time when a child begins to speak phrases. At the same time the child except for stuttering, there are other speech disorders - tongue-tied, bystrogovorenie and so on. Compared with neurotic stuttering marked tendency to convulsive great voice, greater severity of concomitant speech movements. Often such children lag behind in physical and mental development. With age, there are features of stiffness in the manifestations of mental activity and viscosity at the time of a strong nervous and mental excitement (affect) the loss of voluntary control due to the temporary loss of control of the cerebral cortex.

Despite the expressed convulsive speech, the fear of speech in these cases is not as acute as for logoneuroses, and sometimes not at all worried sick. Neurological examination usually reveals signs of general central nervous system. Social adaptation of adult patients in this group is determined by the severity of disorders of the central nervous system.

 Causes | Stuttering - when you need a comprehensive approach

Treatment of stuttering

Treatment of stuttering and complex life should begin only after a full examination. When logoneuroses at the forefront psychotherapeutic effects (autogenous training, hypnosis Hypnosis - ability, sent from above  Hypnosis - ability, sent from above
   and so on). Appointed by calming and relieves muscle spasm drugs, is working with a speech therapist Speech - when to resort to the help of a doctor  Speech - when to resort to the help of a doctor

Neurosis stuttering requires massive medical treatment and speech therapy of hard work.

Any stuttering can be cured, but, first, it should be done as early as possible, and secondly, such treatment requires effort (and sometimes very large) side of the stutterer.