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which genetic disorder is characterized by damage to the nervous system

by Gilbert Rowe Published 3 years ago Updated 2 years ago
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Leukodystrophies are genetic disorders caused by specific gene abnormalities that lead to abnormal development or destruction of the myelin sheath in the nervous system or white matter in the brain.

What are the top 3 common nervous system disorders?

What are the top 3 common nervous system disorders?

  • Alzheimer's disease. Alzheimer's disease affects brain function, memory and behaviour. ...
  • Bell's palsy. Bell's palsy is a sudden weakness or paralysis of facial muscles on one side of the face. ...
  • Cerebral palsy. ...
  • Epilepsy. ...
  • Motor neurone disease (MND) ...
  • Multiple sclerosis (MS) ...
  • Neurofibromatosis. ...
  • Parkinson's disease.

What are the most common CNS disorders?

The most common small-vessel stroke syndromes are the following:

  • Pure motor hemiparesis from an infarct in the posterior limb of the internal capsule or the pons; and face, arm, and leg are almost always involved;
  • Pure sensory stroke from an infarct in the ventral thalamus;
  • Ataxic hemiparesis from an infarct in the ventral pons or internal capsule;

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What are the most common brain disorders?

What are the different types of brain disorders?

  • Brain injuries. Brain injuries are often caused by blunt trauma. ...
  • Brain tumors. Sometimes, tumors form in the brain and can be very dangerous. ...
  • Neurodegenerative diseases. Neurodegenerative diseases cause your brain and nerves to deteriorate over time. ...
  • Mental disorders. ...

What diseases are involved in the nervous system?

The most common nervous system diseases are:

  • Sciatica
  • Parkinson’s disease
  • Multiple sclerosis
  • Neurofibromatosis
  • Motor neuron disease
  • Epilepsy
  • Cerebral palsy
  • Alzheimer’s disease
  • Bell’s palsy
  • Guillain- Barre syndrome

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Which genetic disorder affects the nervous system?

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

What is a genetic neurological disorder?

Neurogenetic disorders are conditions caused by changes in genes and chromosomes. These conditions affect the brain, spinal cord, nerves and muscles. Neurogenetic disorders can create health problems at birth or later in childhood.

What is Tay-Sachs disease caused by?

Tay-Sachs disease is caused by a problem in a child's genes that means their nerves stop working properly. A child can only have it if both parents have this faulty gene. The parents themselves don't usually have any symptoms – this is known as being a "carrier".

What is the most common neurological disorder?

1. Headaches. Headaches are one of the most common neurological disorders and can affect anyone at any age. While many times a headache shouldn't be anything too serious to worry about, if your headache comes on suddenly and repeatedly, you should see a doctor, as these could be symptoms of an underlying condition.

How does neurofibromatosis affect the nervous system?

Individuals with NF2 develop tumors that grow on the eighth cranial nerves and on the vestibular nerves. These tumors often cause pressure on the acoustic nerves, which result in hearing loss. Hearing loss may begin as early as an individual's teenage years.

What causes genetic disorders?

Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that ...

What does Gaucher disease affect?

It is a disorder passed from parents to children (inherited). It causes fatty substances called lipids to build up in certain organs such as the spleen and liver. Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.

How is Huntington's disease inherited?

Huntington's disease is an autosomal dominant disorder, which means that a person needs only one copy of the nontypical gene to develop the disorder. With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent.

What do galactosemia and Tay-Sachs disease have in common?

What do galactosemia and Tay-Sachs disease have in common? Both are conditions caused by the lack of a gene that codes for particular enzymes. What part of the chromosome might be involved with processes such as aging and cancer?

What are some common diseases of the nervous system?

Nervous system diseasesAlzheimer's disease. Alzheimer's disease affects brain function, memory and behaviour. ... Bell's palsy. ... Cerebral palsy. ... Epilepsy. ... Motor neurone disease (MND) ... Multiple sclerosis (MS) ... Neurofibromatosis. ... Parkinson's disease.More items...

What are examples of neurological disorders?

Neurological disabilities include a wide range of disorders, such as epilepsy, learning disabilities, neuromuscular disorders, autism, ADD, brain tumors, and cerebral palsy, just to name a few. Some neurological conditions are congenital, emerging before birth.

What are the top 10 neurological diseases?

Listed in the directory below are some, for which we have provided a brief overview.Acute Spinal Cord Injury.Alzheimer's Disease.Amyotrophic Lateral Sclerosis (ALS)Ataxia.Bell's Palsy.Brain Tumors.Cerebral Aneurysm.Epilepsy and Seizures.More items...

What is the condition that involves the skin, nervous system, eyes, bone structure and endocrine glands?

Basal cell nevus syndrome or Gorlin syndrome – a rare genetic condition that involves the skin, nervous system, eyes, bone structure and endocrine glands with risks of numerous basal cell carcinomas and jaw cysts.

What are the common skin disorders?

Collagenomas, ash leaf macules and angiofibromas are common skin findings. Neurofibromatosis – a genetic disorder of the nervous system and skin. The disease is characterized by findings that include café au lait macules, axillary freckling and numerous neurofibroms.

What is the difference between Cowden syndrome and Muir Torre syndrome?

Muir-Torre syndrome – a hereditary condition characterized by sebaceous tumors of the skin and the potential for developing internal malignancies, most often colon cancer. Cowden syndrome – a rare, inherited condition that causes multiple benign tumor-like growths and increased risk for breast, thyroid and uterine cancers.

What are the other neurological disorders that cannot be easily placed in the above categories?

These include chronic pain conditions, cancers of the nervous system, epilepsy disorders, and stroke. Epi lepsy and stroke are discussed below.

What are the different types of neurodevelopmental disorders?

There are several different classes of neurodevelopmental disorders. Some, like Down Syndrome, cause intellectual deficits. Others specifically affect communication, learning , or the motor system. Some disorders like autism spectrum disorder and attention deficit/hyperactivity disorder have complex symptoms.

What causes depression?

Major depression affects approximately 6.7 percent of the adults in the United States each year and is one of the most common mental disorders. To be diagnosed with major depressive disorder, a person must have experienced a severely depressed mood lasting longer than two weeks along with other symptoms including a loss of enjoyment in activities that were previously enjoyed, changes in appetite and sleep schedules, difficulty concentrating, feelings of worthlessness, and suicidal thoughts. The exact causes of major depression are unknown and likely include both genetic and environmental risk factors. Some research supports the “classic monoamine hypothesis,” which suggests that depression is caused by a decrease in norepinephrine and serotonin neurotransmission. One argument against this hypothesis is the fact that some antidepressant medications cause an increase in norepinephrine and serotonin release within a few hours of beginning treatment—but clinical results of these medications are not seen until weeks later. This has led to alternative hypotheses: for example, dopamine may also be decreased in depressed patients, or it may actually be an increase in norepinephrine and serotonin that causes the disease, and antidepressants force a feedback loop that decreases this release. Treatments for depression include psychotherapy, electroconvulsive therapy, deep-brain stimulation, and prescription medications. There are several classes of antidepressant medications that work through different mechanisms. For example, monoamine oxidase inhibitors (MAO inhibitors) block the enzyme that degrades many neurotransmitters (including dopamine, serotonin, norepinephrine), resulting in increased neurotransmitter in the synaptic cleft. Selective serotonin reuptake inhibitors (SSRIs) block the reuptake of serotonin into the presynaptic neuron. This blockage results in an increase in serotonin in the synaptic cleft. Other types of drugs such as norepinephrine-dopamine reuptake inhibitors and norepinephrine-serotonin reuptake inhibitors are also used to treat depression.

How does Parkinson's disease affect the body?

Each year, 50,000-60,000 people in the United States are diagnosed with the disease. Parkinson’s disease causes the loss of dopamine neurons in the substantia nigra, a midbrain structure that regulates movement. Loss of these neurons causes many symptoms including tremor (shaking of fingers or a limb), slowed movement, speech changes, balance and posture problems, and rigid muscles. The combination of these symptoms often causes a characteristic slow hunched shuffling walk, illustrated in (Figure). Patients with Parkinson’s disease can also exhibit psychological symptoms, such as dementia or emotional problems.

What are the mental disorders?

Mental illnesses are nervous system disorders that result in problems with thinking, mood, or relating with other people. These disorders are severe enough to affect a person’s quality of life and often make it difficult for people to perform the routine tasks of daily living. Debilitating mental disorders plague approximately 12.5 million Americans (about 1 in 17 people) at an annual cost of more than $300 billion. There are several types of mental disorders including schizophrenia, major depression, bipolar disorder, anxiety disorders and phobias, post-traumatic stress disorders, and obsessive-compulsive disorder (OCD), among others. The American Psychiatric Association publishes the Diagnostic and Statistical Manual of Mental Disorders (or DSM), which describes the symptoms required for a patient to be diagnosed with a particular mental disorder. Each newly released version of the DSM contains different symptoms and classifications as scientists learn more about these disorders, their causes, and how they relate to each other. A more detailed discussion of two mental illnesses—schizophrenia and major depression—is given below.

What happens when blood clots in the brain are bursting?

This neuronal death can cause many different symptoms—depending on the brain area affected— including headache, muscle weakness or paralysis, speech disturbances, sensory problems, memory loss, and confusion. Stroke is often caused by blood clots and can also be caused by the bursting of a weak blood vessel. Strokes are extremely common and are the third most common cause of death in the United States. On average one person experiences a stroke every 40 seconds in the United States. Approximately 75 percent of strokes occur in people older than 65. Risk factors for stroke include high blood pressure, diabetes, high cholesterol, and a family history of stroke. Smoking doubles the risk of stroke. Because a stroke is a medical emergency, patients with symptoms of a stroke should immediately go to the emergency room, where they can receive drugs that will dissolve any clot that may have formed. These drugs will not work if the stroke was caused by a burst blood vessel or if the stroke occurred more than three hours before arriving at the hospital. Treatment following a stroke can include blood pressure medication (to prevent future strokes) and (sometimes intense) physical therapy.

What is Wilson disease?

Wilson disease is a rare genetic disorder beginning with liver dysfunction where damage begins by six years of age, but usually presents clinically in teenage years or early twenties . Common signs of associated liver disease include a yellow discoloration (jaundice) of the skin, mucous membranes and the membranes (sclera) that line the eye, ...

How is Wilson disease inherited?

Wilson disease is inherited as an autosomal recessive trait. Genetic diseases are determined by two genes, one received from the father and one from the mother. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene ...

What is the process of finding the genes of a Wilson's disease?

Molecular genetic studies that use DNA from blood cells to search for patterns of differences or similarities, a procedure called haplotype analysis may establish whether a full sibling of an affected patient has Wilson disease, is a carrier of the Wilson disease gene, or is not a carrier.

What is the risk of having a child with one gene and one gene for the disease?

If an individual inherits one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the altered gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% ...

How many people are affected by Wilson's disease?

Although estimates vary, it is believed that Wilson’s disease occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene.

What are the symptoms of Wilson disease?

Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with ...

Why do people with Wilson's disease have anemia?

These individuals may rapidly develop signs and symptoms of liver disease, often associated with anemia due to breakdown of red blood cells (hemolysis) and mental confusion.

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1.Genetic Disorders of the Nervous System

Url:https://www.nervous-system-diseases.com/genetic-disorders.html

27 hours ago Genetic Disorders of the Nervous System Huntington's Disease Huntington's disease is a degenerative disorder of the nervous system that is based on a single gene mutation. Neurofibromatosis This genetic disease predisposes to growth of certain types of tumors and has two different types: Neurofibromatosis Type 1; Neurofibromatosis Type 2

2.The Nervous System - Genes and Disease - NCBI Bookshelf

Url:https://www.ncbi.nlm.nih.gov/books/NBK22197/

7 hours ago Some nervous system diseases are due to genetic mutations. For example, Huntington's disease is an inherited disease characterized by progressive neurodegeneration. Huntington's disease results from a mutation in either copy of the HTT gene, which results in an abnormally folded protein.

3.genetic disorders system nervous Flashcards and Study …

Url:https://quizlet.com/subject/genetic-disorders-system-nervous/

20 hours ago Several diseases that directly affect the nervous system have a genetic component: some are due to a mutation in a single gene, others are proving to have a more complex mode of inheritance. As our understanding of the pathogenesis of neurodegenerative disorders deepens, common themes begin to emerge: Alzheimer brain plaques and the inclusion bodies found in Parkinson disease contain at least …

4.Nervous System Disorders | Boundless Biology | | Course …

Url:https://www.coursehero.com/study-guides/boundless-biology/nervous-system-disorders/

28 hours ago Learn genetic disorders system nervous with free interactive flashcards. Choose from 500 different sets of genetic disorders system nervous flashcards on Quizlet.

5.Genetic Disorders Flashcards | Quizlet

Url:https://quizlet.com/14652472/genetic-disorders-flash-cards/

14 hours ago Alzheimer's disease and Parkinson's disease are both neurodegenerative disorders characterized by loss of nervous system functioning.

6.Genetic Diseases that Affect Skin - Penn Dermatology

Url:https://dermatology.upenn.edu/clinical-programs/genetic-disease/

3 hours ago A human genetic disease caused by an autosomal dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms. Neurofibromatosis. An autosomal dominant genetic disorder that results in the growth of tumors along different types of nerves.

7.Genetic Disorders | Biology Quiz - Quizizz

Url:https://quizizz.com/admin/quiz/5cb42635fdeaaa001a94a803/genetic-disorders

21 hours ago Tuberous sclerosis – a genetic disorder that affects the skin, brain and nervous system, kidneys and heart. Collagenomas, ash leaf macules and angiofibromas are common skin findings. Neurofibromatosis – a genetic disorder of the nervous system and skin. The disease is characterized by findings that include café au lait macules, axillary freckling and numerous neurofibroms.

8.Nervous System Disorders – Biology 2e - opentextbc.ca

Url:https://opentextbc.ca/biology2eopenstax/chapter/nervous-system-disorders/

13 hours ago Q. Why is Down syndrome called trisomy 21. answer choices. The person has 21 pairs of chromosomes instead of 23. The person has an abnormal gene on chromosome 21. The syndrome is caused by having 21 pairs of autosomes. The syndrome results from an extra chromosome 21. Tags: Question 5.

9.Wilson Disease - NORD (National Organization for Rare …

Url:https://rarediseases.org/rare-diseases/wilson-disease/

10 hours ago Spinocerebellar ataxia, for example, leads to neuronal death in the cerebellum. The death of these neurons causes problems in balance and walking. Neurodegenerative disorders include Huntington’s disease, amyotrophic lateral sclerosis, Alzheimer’s disease and other types of dementia disorders, and Parkinson’s disease.

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