Friedreich's Ataxia is an inherited disease that causes progressive damage to the nervous system causing symptoms ranging from muscle weakness to speech problems on the one hand and heart disease on the other. He is called by the name of the physician Nicholas Friedreich, who initially described the condition in the 1860s. "Ataxia", which refers to problems of coordination, such as awkward movements and lack of stability, oAutism Spectrum Disorder (ASD) is a range of complex neurodevelopmental disorders, characterized by social impairments, communication difficulties, and repetitive and restricted stereotypical behavior patterns.
Autism is the most severe form of ASD, while other conditions along the spectrum include a milder form known as Asperger syndrome and another set of disorders such as Rett syndrome, childhood disintegration disorder and generalized disorder Unspecified development (generally known as PDD-NOS).
According to the World Health Organization (WHO), "people with autism have fewer difficulties in the areas related to routine memory or space-visual skills than those requiring symbolic or linguistic skills."
Causes
It is a disorder that is linked to an abnormal biology and chemistry in the brain, but the exact causes of this pathology are unknown. A combination of factors leading to autism spectrum disorder (ASD) is likely to occur. This condition may be inherited in some types of families and may be related to certain genes that are involved.
Despite multiple hypotheses about their causes, they have not been tested. Some researchers believe that damage to a particular region of the brain, called the amygdala, may be involved. Others, on the other hand, investigate whether the disease may be related to a virus that can trigger the symptoms.
As for the assumptions about which some vaccines may cause ASD, studies so far have found no clues or connections to confirm it.ccurs in many diseases and Conditions.
Possible cure
Ataxia currently does not have a drug or one hundred percent effective treatment for its cure, but research to discover it is a constant. These investigations, according to the Spanish Society of Neurology (SEN), seek to find therapeutic targets that can at least slow the evolution of the disease of the affected patients, focusing on previously unseen aspects such as stem cells or therapy Gene.
Causes
Friedreich's Ataxia is an autosomal recessive disease, which means that the patient has to inherit two affected genes, one from each of the parents, for the disease to develop. A person who has only one abnormal copy of a gene for a recessive genetic disease, such as Friedreich's ataxia is called a carrier. A carrier will not acquire the disease but could transmit the affected gene to its children. If both parents are carriers of the Friedreich's Ataxia gene, their children will have 1 in 4 chances of owning the disease and 1 in 2 possibilities of inheriting an abnormal gene that they, in turn, could pass to their children. Approximately 1 in 90 Americans of European origin carry the affected gene
Symptoms usually begin between the ages of 5 and 15, but in rare cases they may appear as early as 18 months or as late as 30 years of age. The first symptom in appearing is usually the difficulty in walking or ataxia of walking. Ataxia gradually worsens and slowly spreads to the arms and then to the trunk. Initial signs include deformities of the feet such as clubfoot, flexion of the toes (involuntary twisting of the toes), thick toe-shaped toes, and inversion of the feet (Detour inwards). Over time, muscles begin to weaken and become stunted, especially in the feet, lower parts of the legs and hands and appear deformities.
Other symptoms include loss of tendon reflexes, especially in the knees and wrists and ankles. There is often a gradual loss of sensation in the extremities, which can spread to other parts of the body. Dysarthria appears (slowness in diction or indistinct diction) and the person gets tired easily. The rhythmic, rapid and involuntary movements of the eyeball are common. Most people with Friedreich's ataxia acquire scoliosis (curving of the spine to one side), which, if acute, can make it difficult to breathe.
Other symptoms that may occur include chest pain, shortness of breath and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as cardiomyopathy (enlargement of the heart), myocarditis (inflammation of the heart walls), myocardial fibrosis (formation of similar material To fibers in the heart muscles) and heart failure.
Rhythmic abnormalities of the heart such as tachycardia (rapid heart beat) and heart block (difficult driving of heart impulses inside the heart) are also common. About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent of them get diabetes mellitus. Some people lose the ability to hear or see. The way the disease progresses varies from person to person. Usually, within 15 to 20 years after the first symptoms appear, the person is held in a wheelchair and, in the later stages of the disease, people are totally disabled. Life expectancy is greatly affected and most people with Friedreich's ataxia die in the early years of adulthood if there is also serious heart disease, the most common cause of death. However, some people with less acute symptoms of Friedreich's ataxia live much longer.
Types
Although Friedreich's ataxia is the most common of all, there are about 200 different types of ataxias. Of all of them, in almost 160 is known its chromosomal location.
Globally the ataxias can be classified as follows:
Cerebellar ataxia
When there are alterations in the cerebellum or its connections. It causes uncoordinated movements with irregular steps and wobbles. It also gives rise to a shaky speech that affects the tone and volume of the voice. Can be:
Hereditary autosomal recessive. It makes up seven out of every 100,000 cases of neurological diseases. It usually occurs before the age of 20 and causes abnormal development of the cerebellum and spinal cord. The most frequent are Friedriech ataxia and ataxia telangiectasia.
Hereditary autosomal dominant. The cerebellum presents dysfunctions that cause incoordination in muscular activity, presenting a constant imbalance and even dizziness.
Hereditary episodic. It causes recurrent episodes of vertigo or other typical symptoms of ataxia.
Hereditary linked to X. Causes symptoms secondary to those of ataxia, such as dementia, deafness or spasticity.
Acquired. It is caused by a disease that affects the cerebellum, such as tumors, infarcts, hemorrhages or demyelinating lesions. It may have a toxic origin (alcohol, drugs), autoimmune (gluten, autoimmune diseases), nutritional deficiencies (lack of vitamin B12, vitamin E) or associated with degenerative diseases (atrophies).
Sensory ataxia
It affects the posterior cords of the dorsal ganglia or the spinocerebral pathways. It usually manifests itself with symptoms such as loss of balance or closing of the eyes.
Labyrinth ataxia
It affects the vestibular system and the labyrinth (ear) system. It causes imbalances.
Diagnosis
Doctors diagnose Friedreich's Ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination.
Tests that can be done include the following:
Electromyogram (EMG), which measures the electrical activity of muscle cells.
Nerve conduction study, which measures the speed at which the nerves transmit the impulses.
Electrocardiogram (EKG), which gives a graphical presentation of the electrical activity or pattern of heart beat.
Echocardiogram, which records the position and movement of the heart muscle.
Magnetic resonance imaging (MRI) or computed tomography (CT) scans, which provide an image of the brain and spinal cord.
Derivation or spinal tap to evaluate cerebrospinal fluid.
Blood and urine tests to evaluate high glucose levels.
Genetic testing to identify the affected gene.
Treatments
Like many degenerative diseases of the nervous system, there is currently no effective cure or treatment for Friedreich's Ataxia. However, many of the symptoms and complications associated with this disease can be treated in order to help patients maintain optimal functioning for as long as possible. Diabetes, if present, can be treated with diet and medications such as insulin, and some of the heart problems can be treated with medications as well. Orthopedic problems such as deformities of the feet and scoliosis can be treated with supports or surgery. Physical therapy can prolong the use of the arms and legs. Scientists hope that recent advances in understanding the genetic aspects associated with Friedreich's Ataxia may lead to far-reaching advances in treatment.
Other data
Friedreich's Ataxia is the first known recessive genetic disease that is caused by triple repeat expansion. Although 98 percent of the carriers of Friedreich's ataxia have a particular triple repeated genetic expansion, this is not found in all cases of the disease. A very small proportion of affected people have other genetic coding defects that are responsible for the disease. Repeated triple expansion apparently disrupts the normal conversion of amino acids to protein, greatly reducing the amount of frataxin that is produced.
Research indicates that without a normal level of frataxin certain cells in the body (especially brain, spinal cord and muscle cells) can not withstand normal amounts of "oxidative stress" produced by mitochondria, plants Producing cells. This indication about the possible cause of Friedreich's ataxia was discovered after scientists conducted studies using a yeast protein with a structure similar to that of human frataxin. They found that the lack of this protein in the yeast cell led to a toxic concentration of iron in cellular mitochondria. When excess iron reacted with oxygen, free radicals were produced. Although free radicals are essential molecules in the body's metabolism, they can also destroy cells and cause damage to the body.
Ataxia is one of the diseases with a higher socio-health cost, according to the Spanish Society of Neurology. The total cost of treatment of the disease in Spain reaches 167 million euros, of which 21 million are direct health costs.
Histological classification
Humans have two copies of each gene - one inherited from the mother and one from the father. The genes are located at specific locations on each of the individual's 46 chromosomes, which are tight spiral-shaped DNA strands containing millions of chemicals called bases. These bases - adenine, thymine, cytosine and guanine - are called in abbreviated form A, T, C and G. Certain bases are always "paired" (A with T; C with G) and different combinations of base pairs join in Games of three to form coded messages. These coded messages are "recipes" for fabric
Approximately 1 in 90 Americans of European origin carry the affected gene. In the case of Spain, there are more than 8,000 cases of ataxia diagnosed until 2014, according to data collected by the SEN.
Etiology
In Friedreich's ataxia, ataxia results in degeneration of nerve tissue in the spinal cord and nerves that control muscle movements in the arms and legs. The spinal cord becomes thinner and the nerve cells lose some of their myelin coverings - the insulation layer in all nerve cells that helps to transmit nerve impulses.
History
It is called by the name of the physician Nicholas Friedreich, who initially described the condition in the 1860s. The dominant ataxias were later discovered, such as the dominant ataxia,
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Atherosclerosis
The arteries are blood vessels that carry oxygen-rich blood to the heart and other parts of the body.
When the inner linings of these arteries are filled with fat, cholesterol and other substances forming a plaque that obstructs them, atherosclerosis appears.
As this plaque forms, the wall of the artery increases and loses its elasticity. One of the problems with this disease is that it tends to develop quite quickly. Atherosclerosis affects both medium and large arteries.
Causes
As the body ages, the hardening of the arteries becomes common among patients: the plaques build up and narrow the arteries, making them more rigid.
Clots can form in these narrow arteries and block blood flow, but fragments of plaque can also be released and move to other smaller vessels and prevent the passage of blood and oxygen.
Although the exact causes of this disease are not known, there are some circumstances that can become risk factors and cause the onset of this condition, such as:
Smoke.
High Cholesterol and Triglyceride Levels
Arterial hypertension.
Obesity.
Sedentarism.
Make meals with high percentage of saturated fats.
Another risk factor, but less decisive in developing atherosclerosis, is to have a first-degree relative who has had this disease at an early age.
Men are more prone to atherosclerosis; On the other hand, when women reach menopause, the risk is equal between men and women.
At the beginning of atherosclerosis the symptoms are almost zero and do not begin to appear until the obstruction in the arteries is serious. When this happens, severe pain appears in the affected area.
These symptoms usually occur when the blood flow to a part of the body becomes slow or blocked. It can cause chest pain and difficulty breathing.
The most common areas of involvement are the heart, carotid, cerebral arteries, and lower limbs.
In some people the symptoms appear when they are at rest and, in contrast, in others, they only appear when they perform some type of activity.
Prevention
To prevent atherosclerosis, risk factors such as consumption of saturated fat and cholesterol, hypertension, smoking or lack of exercise should be avoided.
Therefore, specialists recommend a balanced and healthy diet and perform physical activities routinely to prevent the occurrence of such conditions.
Types
Currently, there is no classification by types of this disease.
Diagnosis
First, to diagnose atherosclerosis, the specialist will perform a physical examination to check the patient's symptoms, and in addition, will perform one of the following tests or, depending on the case, a combination of the same:
Cardiac catheterization: A contrast is injected into the affected coronary artery and then an x-ray test is performed. It is used to locate places where there are narrowing or obstacles and other irregularities.
Do an ultrasound test, called Doppler, consisting of sending sound waves to the blood vessels to assess the flow of blood. If this sound is weak or void, it will mean an obstruction in the artery.
Contrast blood pressure in the ankles and arms to determine if there is good or poor circulation in the blood. If the pressure difference is large, that would mean that the patient has atherosclerosis.
Perform a nuclear scan when the patient is resting, or after having performed a physical activity; This test may reveal which areas of the heart are not getting enough blood.
Treatments
Treatment may vary from person to person due to age or health status, and depending on where atherosclerosis is located. But, usually, the procedure to treat atherosclerosis is:
Modify and reduce the patient's own habits: Reduce cholesterol, smoking or lack of exercise.
Administering different types of medicines, such as anticoagulants to prevent the formation of clots, or antiplatelet medicines to reduce the adhesion capacity of platelets, because they produce clots.
Medications may also be prescribed to lower blood pressure and cholesterol.
Surgical treatments such as angioplasty, which opens the clogged arteries, or a coronary artery bypass that is used in patients who have angina due to obstruction in the coronary arteries.
Other data
If early treatment is not used for atherosclerosis, this disease can become a risk factor for heart attacks or strokes.
Specialists recommend that patients at risk for this condition begin testing from the age of 20 to perform early detection, if you have.
In the case of not having risk factors that can cause it, it is advised that the first examination in men is performed at 35 years and at 45 years in the case of women.
Denomination
The Royal Spanish Academy (RAE), in its panhispánico dictionary of doubts, includes as a preference the use of the term aterosclerosis instead of atherosclerosis, leaving this second meaning for its adjective form: atherosclerotic.
It is rare to use the term atherosclerosis, but even so, according to the basic rules of the language, when a word that begins with "s liquid" carries a prefix ending in vowel, it must include one and intermediate.
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Autism
Autism Spectrum Disorder (ASD) is a range of complex neurodevelopmental disorders, characterized by social impairments, communication difficulties, and repetitive and restricted stereotypical behavior patterns.
Autism is the most severe form of ASD, while other conditions along the spectrum include a milder form known as Asperger syndrome and another set of disorders such as Rett syndrome, childhood disintegration disorder and generalized disorder Unspecified development (generally known as PDD-NOS).
According to the World Health Organization (WHO), "people with autism have fewer difficulties in the areas related to routine memory or space-visual skills than those requiring symbolic or linguistic skills."
Causes
It is a disorder that is linked to an abnormal biology and chemistry in the brain, but the exact causes of this pathology are unknown. A combination of factors leading to autism spectrum disorder (ASD) is likely to occur. This condition may be inherited in some types of families and may be related to certain genes that are involved.
Despite multiple hypotheses about their causes, they have not been tested. Some researchers believe that damage to a particular region of the brain, called the amygdala, may be involved. Others, on the other hand, investigate whether the disease may be related to a virus that can trigger the symptoms.
As for the assumptions about which some vaccines may cause ASD, studies so far have found no clues or connections to confirm it.
Usually the symptoms are usually detected by the parents in the first 18 months of life and the specialists who treat these children usually appreciate it within two years. Autistic children are characterized by problems in the following areas:
While playing.
In their social interactions.
In the field of verbal or non-verbal communication.
Some children do not present symptoms before the first or second year of age and then fall victim to a sudden regression that affects their communicative or social skills, skills they had previously acquired. Symptoms of autism can range from moderate to severe. Generally speaking, a person with such a condition can:
Be very sensitive about sight, hearing, touch, smell or taste (for example, you may experience distress by having to dress in clothes that are rough on the touch).
Experience a period of distress when you see that your routines have been modified.
Perform repetitive body movements.
Show an unusual attachment to certain objects.
Problems related to communicative skills include:
Inability to start or maintain a conversation.
Preference for communication with gestures instead of verbal.
Develop language very slowly over the years or not develop it.
Do not adjust your gaze to observe objects that others are looking at at that moment.
Inability to point objects that you want other people to see (usually occurs in the first 14 months of life).
Repeat words or memorize landscapes.
As far as social interactions are concerned, problems arise in the following areas:
Make friends.
Participate in interactive games.
It shows a withdrawn attitude.
Maintain eye contact.
The patient with autism can treat others as objects.
Preference for spending time alone and not with others.
Lack of empathy.
Response to sensory information:
Do not be startled by loud noises.
The normal noises can seem painful and it puts the hands to the ears.
You can avoid physical contact because it is very stimulating or overwhelming.
Fleets surfaces, takes objects to the mouth or licks them.
It seems to have an increase or decrease in the response to pain.
Regarding the game:
Lack of ability to imitate other people's actions.
Preference for ritualistic or solitary games.
Little skill for imaginative play.
Behaviors:
Acts with intense anger attacks.
It is dedicated to a single theme or task.
It has a short attention span.
He has very restricted interests.
Is hyperactive or too passive.
It shows aggression towards other people or toward oneself.
Uses repetitive body movements.
Prevention
Due to ignorance of the causes of autism, at present it is practically impossible to prevent its occurrence. However, an early diagnosis, knowledge of the disease and, above all, a compromised family environment, with the help of the appropriate professionals, can help prevent the progression and chronification of this pathology.
Types
Rett Syndrome: The differential characteristic of this type of autism is that it presents almost exclusively in girls and is regressive. The affected people begin to undergo a degenerative and progressive process of the nervous system.
Asperger's Syndrome: It is the most difficult and sometimes late type of autism to diagnose because the affected people do not have any type of intellectual disability or physical trait that identifies them. The deficit is therefore found in the field of social skills and behavior.
Childhood Disintegrative Disorder or Heller's syndrome: It usually appears over 2 years, although sometimes it does not become evident until after the 10. It coincides with the other types of autism in affecting the same areas (language, social function and motor), but It differs in its regressive and sudden character.
Generalized Developmental Disorder Not Specified: It is a diagnostic label that is used in cases where clinical symptoms are too heterogeneous to be included in any of the other types.
Diagnosis
ASDs can be difficult to diagnose because there are no medical tests, such as blood tests, to help confirm these disorders. To make a diagnosis, doctors evaluate the child's behavior and development.
Sometimes they can be detected at 18 months or earlier. By the age of two, the diagnosis made by a specialist can be considered very reliable. However, many children do not receive a definitive diagnosis until they are older. This delay means that there are children with ASD who do not receive the help they need.
The diagnosis of ASD is made in two stages:
Developmental Assessment: During this evaluation, the physician can ask the parents questions or talk and play with the child to examine how they learn, speak, behave, and move. A delay in any of these areas could be a sign of a problem.
Comprehensive diagnostic assessment: The second stage of diagnosis is an integral assessment. This test may include an examination of the child's behavior and development and an interview with the parents. It may also include hearing and sight tests, genetic tests, neurological tests, and other types of doctors.
Tratamientos
No hay cura para el TEA. Las terapias e intervenciones conductuales están diseñadas para minimizar los síntomas específicos y pueden aportar una mejoría sustancial. El plan de tratamiento ideal coordina las terapias e intervenciones que cubren las necesidades específicas de los niños a nivel individual.
Intervenciones conductuales educativas
Los terapeutas usan sesiones de capacitación intensivas y altamente estructuradas orientadas a ayudar a los niños a desarrollar habilidades sociales y del lenguaje, como el Análisis Conductual Aplicado. El asesoramiento familiar para los padres y los hermanos de los niños con TEA a menudo ayuda a las familias a enfrentar los desafíos particulares de vivir con un niño con TEA.
Medicamentos
Los médicos podrían recetar fármacos para el tratamiento de síntomas específicos relacionados con el TEA, tales como ansiedad, depresión, o trastorno obsesivo-compulsivo.
Los medicamentos antisicóticos se usan para tratar problemas graves de conducta. Las convulsiones pueden tratarse con uno o más anticonvulsivos. Los medicamentos usados para tratar a las personas con trastorno por déficit de la atención pueden usarse eficazmente para ayudar a disminuir la impulsividad y la hiperactividad.
Otras terapias
Existe un número de terapias o intervenciones controvertidas a disposición de las personas con TEA, pero pocas, si las hay, están sustentadas por estudios científicos.
Los padres deben ser precavidos antes de adoptar tratamientos no probados. Algunos niños con autismo parecen responder a una dieta libre de gluten o caseína. El gluten se encuentra en alimentos que contienen trigo, centeno y cebada. La caseína se encuentra en la leche, el queso y otros productos lácteos. No todos los expertos están de acuerdo en que los cambios en la dieta harán la diferencia y no todos los estudios de este método han mostrado resultados positivos.
Otros datos
Aunque TEA varía significativamente en carácter y gravedad, se produce en todos los grupos étnicos y socioeconómicos y afecta a todos los grupos etarios.
Los expertos calculan que tres de cada 1,000 niños sufrirán de TEA. Los varones tienen cuatro veces más probabilidades de tener TEA que las mujeres.
Algunos trastornos emocionales, como el trastorno bipolar, se producen más frecuentemente que el promedio en las familias de las personas con TEA.
Contact your doctor for more information. The information provided on (what the health) is of a general nature and for purely disclosure purposes can in no way replace the advice of a physician (or a legally qualified person) or, in specific cases, of other operators health.
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