Clinical Trials Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. Open Trials Closed Trials. Neuromuscular Program Meet a team of experts who focus on you and your condition.
Clinical Trials. MyHealth Login. Financial Assistance. Medical Records. Contact Us. Video Visits. Get a Second Opinion. Healthcare Professionals.
The most common cause of death for people with ALS is respiratory failure. On average, death occurs within 3 to 5 years after symptoms begin.
However, some people with ALS live 10 or more years. Most people with ALS develop trouble speaking. This usually starts as occasional, mild slurring of words, but becomes more severe. Speech eventually becomes difficult for others to understand, and people with ALS often rely on other communication technologies to communicate.
People with ALS can develop malnutrition and dehydration from damage to the muscles that control swallowing. They are also at higher risk of getting food, liquids or saliva into the lungs, which can cause pneumonia. A feeding tube can reduce these risks and ensure proper hydration and nutrition. Some people with ALS have problems with memory and decision-making, and some are eventually diagnosed with a form of dementia called frontotemporal dementia.
Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version.
This content does not have an Arabic version. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Just what is ALS? The term "sporadic" applies when there is no known history of other family members with the disease. The term "genetic" can apply to both familial and sporadic ALS. In some sporadic cases, the family history may not be known.
In others, parents may have died before showing signs of the disease. In still others, an ALS-causing genetic mutation may not have been present in either parent but may have occurred for the first time in the person with the disease. Once an ALS-causing mutation has occurred in someone, his or her children can inherit it, and their disease would be considered "familial. Loci is the plural form of locus, which refers to the position of a gene or other significant sequence on a chromosome.
Although most familial ALS cases follow an autosomal dominant inheritance, recessive and X-linked forms have been described. Autosomal means that the mutation occurs in a chromosome other than X or Y. Dominant means that only one copy normally, a person has two copies of each gene, one inherited from the father and one inherited from the mother of a gene is enough to cause a disease. A person who inherits the defective gene from a parent will have the disease, as will the parent.
In the recessive pattern of inheritance, two copies of a defective gene are required for expressing the disease. One copy is inherited from each parent, neither of whom would normally have the disease. In females, who have two X chromosomes, a normal copy of the gene on one chromosome can often compensate at least partially for the defective copy. Therefore, X-linked diseases usually affect males more severely than females, because males have only one X chromosome.
However, as described above, additional genes are associated with the disease. Since then, scientists have discovered many more flawed genes that can cause familial ALS. C9orf72 gene Chromosome 9 open reading frame 72 is manufacturing a protein that is highly abundant in nerve cells, and mainly located at the tip of the axons, an area called the presynaptic terminal.
C9orf72 is the most common autosomal dominantly inherited forms of familial ALS 34 percent of the cases in European population , together with SOD1 as described above.
Menu Search Home Diseases Amyotrophic lateral sclerosis. You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. Nervous System Diseases.
Amyotrophic lateral sclerosis type 10; Amyotrophic lateral sclerosis type 11; Amyotrophic lateral sclerosis type 2; Amyotrophic lateral sclerosis type 10; Amyotrophic lateral sclerosis type 11; Amyotrophic lateral sclerosis type 2; Amyotrophic lateral sclerosis type 3; Amyotrophic lateral sclerosis type 4; Amyotrophic lateral sclerosis type 5; Amyotrophic lateral sclerosis type 6; Amyotrophic lateral sclerosis type 7; Amyotrophic lateral sclerosis type 8; Amyotrophic lateral sclerosis type 9; Juvenile amyotrophic lateral sclerosis ; Progressive bulbar palsy See More.
Summary Summary. Symptoms Symptoms. Showing of 29 View All. Ongoing loss of nerve cells. Excessive, persistent worry and fear. Trouble breathing. Emotional instability. Inability to move.
Muscle degeneration. Muscle wasting. Involuntary muscle stiffness, contraction, or spasm. Dry mouth. Dry mouth syndrome. Reduced salivation. Muscle twitch. Increased reflexes. Muscular weakness. Pauses in breathing while sleeping. Do you have more information about symptoms of this disease?
We want to hear from you. Do you have updated information on this disease? Inheritance Inheritance. The inheritance pattern associated with familial ALS varies depending on the disease-causing gene involved. Most familial cases are inherited in an autosomal dominant manner. This means that only one altered mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. In most of these cases, an affected individual has one parent with the condition.
Less frequently, ALS is inherited in an autosomal recessive manner. In autosomal recessive inheritance, both copies of the disease-causing gene typically one copy inherited from each parent must have a mutation for the individual to be affected.
The parents of an individual with an autosomal recessive condition, who presumably each carry one mutated copy of the gene, are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition.
Autosomal recessive forms of ALS may be mistaken for non-inherited sporadic forms due to having a negative family history of the condition. In rare cases, ALS is inherited in an X-linked dominant manner.
This occurs when the disease-causing gene is located on the X chromosome a sex chromosome. Although females have 2 X chromosomes , having a mutation in one X chromosome is still sufficient to cause the condition. Males who have a mutation and only one X chromosome will have the condition. Usually, males with an X-linked dominant form of ALS experience more severe symptoms than females with the same form. Some individuals who do inherit a mutation known to cause ALS never develop signs and symptoms of ALS, although the reason for this is unclear.
This phenomenon is referred to as reduced penetrance. Diagnosis Diagnosis. Diagnosis of amyotrophic lateral sclerosis ALS may be suspected due to symptoms and the history of the way the symptoms progressed.
ALS is usually strongly considered if the symptoms suggest both upper and lower motor neurons are affected. Basically, upper motor neurons UPN are found in the brain, whereas lower motor neurons are found in the spinal cord LMN.
0コメント