Table of ContentsView AllTable of ContentsWhat Is It?TypesSymptomsCausesDiagnosisTreatmentPrognosisCoping
Table of ContentsView All
View All
Table of Contents
What Is It?
Types
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
The term “familial ALS” refers to when a family has more than oneamyotrophic lateral sclerosis(ALS) occurrence.ALS is rare, affecting about 30,000 people in the United States, with 5,000 new cases diagnosed yearly.Only 5%–10% of those are familial ALS cases.
This article will review what familial ALS is, its symptoms, causes, diagnosis, and treatments.
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What Is Familial ALS?
ALS is a degenerative brain disease that affects motor nerve cells. These cells transmit information to the brain. ALS causes nerve cells to waste away and eventually stop working. As a result, both the upper and lower parts of the body begin to lose their ability to make specific muscles work, leading to muscle weakness and paralysis.
Familial ALS means that a family has more than one ALS occurrence. Only about 5%–10% of people diagnosed with ALS have familial ALS, and about 90% are considered to be “sporadic” or nonfamilial ALS.
Types of Familial ALS
Familial ALS is one of the two types of ALS, the other being sporadic ALS, which is much more common. About 95% of people who have ALS have sporadic ALS, which means that the disease occurs without a clear reason.
People with familial ALS often start showing symptoms at an earlier age than those with sporadic ALS. The signs and symptoms of familial ALS usually appear around the age of 40–55 compared to age 55–75 in sporadic ALS.
Early symptoms of familial ALS may be more subtle and include:
In the earlier stages, ALS may show up as having difficulty completing a simple task such as writing or tying a shoe. People may also have difficulty walking, and they trip or fall more frequently. Symptoms may start in the arms, and legs, or with speech and swallowing issues.
Later symptoms of familial ALS are much more obvious as muscle weakness moves to other body parts and include:
Eventually, people with ALS will lose the ability to stand, walk, or use their hands and arms. Because the muscles that assist with breathing are also affected, patients need assistance with a ventilator. A small percentage of individuals with ALS develop a form ofdementiaover time.
Genetic mutations cause familial ALS. Mutations in the C9orf72 gene account for 30%–40% of familial ALS cases within the United States and Europe.In other areas of the world, familial ALS is linked to other gene mutations, including SOD1 , TARDBP, and FUS gene mutations.About 60% of people with familial ALS have a known and identified genetic mutation.
Diagnostic tests for Familial PLS include:
Because familial ALS symptoms progress rapidly and become debilitating over time, various healthcare providers are needed for treatment. Providers involved in treatment include physicians, nutritionists, clinical psychologists, and home care and hospice nurses. Additionally, physical, occupational, speech, and respiratory therapists are also very involved in treating ALS patients.
Medications to help manage ALS symptoms and improve the quality of life for people with ALS include:
Healthcare providers may also prescribe medications to help with the following:
As the disease progresses into later stages, additional devices may be used to help ALS patients communicate more independently, including:
As ALS progresses, the muscles that help with breathing weaken, and people may need additional breathing support, with nasal oxygen or a mechanical ventilator that inflates and deflates the patient’s lungs.
Unfortunately, most people with ALS die within three to five years, usually from respiratory failure. About 10% of ALS patients live for 10 years or longer.
Coping with an ALS diagnosis can be very challenging. Some people may have feelings of anxiety or sadness, which are normal. The ALS Association has support groups that may be helpful to those with ALS to let them know they’re not alone in facing this disease. Theirsupport group locateris a great place to start.
ALS is overwhelming, but there are ways to cope including:
Summary
Amyotrophic lateral sclerosis (ALS) is a rare and progressive neurological disease affecting the spinal cord and brain nerve cells. Familial ALS means that a family has more than one ALS occurrence. Only about 5%–10% of people diagnosed with ALS have familial ALS. People with familial ALS often start showing symptoms at an earlier age than those with sporadic ALS.
A Word From Verywell
A diagnosis of familial ALS can be overwhelming. But it is important to remember that a wide range of support is available to help you cope with the symptoms of the disease. If you or a family member show signs or symptoms of ALS, see your healthcare provider right away, especially if you also have a family member with the disease.
8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Occurrence.Amyotrophic Lateral Sclerosis (ALS).John Hopkins Medicine.ALS - amyotrophic lateral sclerosis.Centers For Disease Control and Prevention.What is amyotrophic lateral sclerosis (ALS)?ALS Association.FYI: Familial amyotrophic lateral sclerosis (FALS) and genetic testing.National institute of Neurological Disorders and Stroke.Amyotrophic lateral sclerosis (ALS) fact sheet.Medline Plus.Amyotrophic lateral sclerosis.Medline Plus.Amyotrophic lateral sclerosis.University of Pittsburgh MDA-ALS Center.Coping with ALS.
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Occurrence.Amyotrophic Lateral Sclerosis (ALS).John Hopkins Medicine.ALS - amyotrophic lateral sclerosis.Centers For Disease Control and Prevention.What is amyotrophic lateral sclerosis (ALS)?ALS Association.FYI: Familial amyotrophic lateral sclerosis (FALS) and genetic testing.National institute of Neurological Disorders and Stroke.Amyotrophic lateral sclerosis (ALS) fact sheet.Medline Plus.Amyotrophic lateral sclerosis.Medline Plus.Amyotrophic lateral sclerosis.University of Pittsburgh MDA-ALS Center.Coping with ALS.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Muscular Dystrophy Occurrence.Amyotrophic Lateral Sclerosis (ALS).John Hopkins Medicine.ALS - amyotrophic lateral sclerosis.Centers For Disease Control and Prevention.What is amyotrophic lateral sclerosis (ALS)?ALS Association.FYI: Familial amyotrophic lateral sclerosis (FALS) and genetic testing.National institute of Neurological Disorders and Stroke.Amyotrophic lateral sclerosis (ALS) fact sheet.Medline Plus.Amyotrophic lateral sclerosis.Medline Plus.Amyotrophic lateral sclerosis.University of Pittsburgh MDA-ALS Center.Coping with ALS.
Muscular Dystrophy Occurrence.Amyotrophic Lateral Sclerosis (ALS).
John Hopkins Medicine.ALS - amyotrophic lateral sclerosis.
Centers For Disease Control and Prevention.What is amyotrophic lateral sclerosis (ALS)?
ALS Association.FYI: Familial amyotrophic lateral sclerosis (FALS) and genetic testing.
National institute of Neurological Disorders and Stroke.Amyotrophic lateral sclerosis (ALS) fact sheet.
Medline Plus.Amyotrophic lateral sclerosis.
University of Pittsburgh MDA-ALS Center.Coping with ALS.
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