What is Familial ALS?

The term "familial ALS" refers to when a family has more than one amyotrophic 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.

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.

Symptoms

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:

• Muscle weakness and stiffness of the arms, legs, neck, or the diaphragm
• Muscle cramping
  
• Muscle twitching in the tongue
• Slurred or nasal-sounding speech
• Problems with chewing and swallowing

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:

• Problems with movement
• Difficulty chewing and swallowing food
• Difficulty speaking and forming words, and
• Breathing problems
• Weight loss
• Anxiety or depression due to loss of independence
• Painful neuropathy due to muscle cramps
• Loss of the ability to breathe independently

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 of dementia over time.

Causes

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.

Diagnosis

Diagnosing familial ALS may require several different types of diagnostic tests. A healthcare provider may likely start by gathering past medical history, performing a physical examination, and gathering information about symptoms.

Diagnostic tests for Familial PLS include:

• A clinical and neurological examination
• Blood and urine tests
• Electromyography (EMG)
• A nerve conduction study (NCS)
• Lumbar puncture
• Magnetic resonance imaging (MRI) of the brain and spine
• Muscle biopsy
• Genetic testing
• Swallowing studies
• Repeat neurological examinations and diagnostic testing to assess if symptoms are getting worse
  

Treatment

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 may include:

• Riluzole (Rilutek): An oral medication believed to reduce damage to motor neurons and prolong survival by a few months.
• Edaravone (Radicava): An intravenous infusion medication believed to help slow the decline in daily activities.

Healthcare providers may also prescribe medications to help with the following:

• Muscle cramps and stiffness
• Excess saliva and phlegm
• Pain control
• Depression and anxiety
• Sleep difficulties
• Constipation

As the disease progresses into later stages, additional devices may be used to help ALS patients communicate more independently, including:

• Computer-based speech synthesizers that use eye-tracking technology to help people with yes and no answers.
  
• A brain-computer interface (BCI) system that allows ALS patients to communicate or control equipment such as a wheelchair using only brain activity.

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.

Prognosis

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

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. Their support group locater is a great place to start.

ALS is overwhelming, but there are ways to cope including:

• Keep a positive attitude.
• Lean on family and friends.
• Join a support group.
• Seek treatment early.
• Take time to adjust emotionally and physically.
• Plan care decisions ahead of time.
  

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.