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Amyotrophic lateral sclerosis (ALS)

What is ALS?

Amyotrophic lateral sclerosis (ALS), also referred to as Lou Gehrig’s disease, is a progressive motor neuron disease affecting the nerve cells in the brain and spinal cord. Motor neurons are small bundles of nerves that run from the brain to the spinal cord, then from the spinal cord to the muscles throughout the body.

The progressive degeneration of the motor neurons causes them to die, and the brain loses the connection with the muscle. The result is a lack of muscle control. This “disconnection” then causes the muscle to lose neuron nourishment and stimulation, resulting in muscle atrophy (becoming smaller).

Causes

In about 10 percent of cases, ALS is caused by an inherited genetic defect. In all other cases, the cause is unknown. ALS currently affects about five out of every 100,000 people worldwide.

There is no known risk factor for ALS, except for having a family member who has had the hereditary form of the disease. The biological mechanisms that cause ALS are only partially understood and may be due to a particular gene called SOD1. A mutation in this gene is thought to make a protein that is toxic to the motor nerve cells. Due to the accumulation of this toxin, people with ALS progressively lose the ability to function and care for themselves. They no longer have voluntary control over their muscles and eventually lose involuntary control that is required for vital organ systems.

Clinic

The ALS Multidisciplinary Clinic will begin seeing patients in September 2014. The clinic will specialize in the care and treatment of individuals living with amyotrophic lateral sclerosis (ALS) or primary lateral sclerosis (PLS). The clinic will staff a multidisciplinary team of health care professionals from the ALS Association and Norton Neuroscience Institute. Mark P. Bazant, M.D., a neurologist specializing in the care of ALS patients, will direct the clinic and its operations. The goal of the clinic is to provide optimal care, support and quality of life for patients who have already been diagnosed with either ALS or PLS.

To learn more, or schedule an appointment, please call (502) 899-6782

Staff

Mark P. Bazant, M.D., neurologist
Sage Bailey, respiratory therapist
Katherine Dally, speech-language pathologist
Rusty Mattingly, occupational therapist
Laura Miller, physical therapist
Regina Wiseman, pulmonary technologist

Symptoms

The initial onset of ALS, symptoms may be so slight that they are frequently overlooked. Most symptoms develop later in adulthood, usually after age 50. However, they can occur in younger people. People who experience ALS have a loss of muscle strength and coordination that gradually gets worse. Muscle weakness may occur in hands, arms or legs or the muscles that control speech, swallowing and breathing. Often the early signs include twitching and muscle cramps, especially in the hands and feet. These signs can vary significantly from person to person. Symptoms often begin with tripping or falling spells. For others, symptoms begin with slurred speech or episodes of crying or laughing. Difficulty lifting items, buttoning clothes or walking are also common signs.

Muscle weakness is the hallmark sign in ALS, occurring in approximately 60 percent of patients. As the disease begins to worsen, it spreads to the trunk muscles of the body. This leads to dysfunction or weakening of speech, swallowing, chewing and breathing. When breathing muscles become affected, the patient will require permanent ventilator support to survive. These signs represent the end stage of the disease process.

Diagnosis

To date, there is no one test or procedure to ultimately diagnose ALS. It is through a physical examination and diagnostic testing, often to rule out other diseases that mimic ALS, that a diagnosis can be made.

The physical exam usually includes an extensive strength and endurance exam. This will assess the patient’s degree of muscle weakness throughout the body. This may show weakness beginning in a particular area, muscle tremors, spasms, twitching or atrophy. A patient with ALS may even have an abnormal gait (or be stiff or have a clumsy walk). Reflexes are often abnormal in that they will be increased at the joint and reduced in the gag reflex. Some patients may have trouble controlling episodes of crying or laughing, often called “emotional incontinence.”

Comprehensive diagnostic testing may be done at the discretion of the physician. These tests may include:

  • Neurological exam
  • Electromyography (EMG) and nerve conduction velocity (NCV)
  • Blood and urine studies
  • Spinal tap
  • X-rays, including magnetic resonance imaging (MRI)
  • Myelogram of the cervical spine
  • Muscle and/or nerve biopsy

Treatment

At this time, there is no treatment that will cure or slow down the progression of ALS. There are medications that will help with symptoms, along with palliative care to improve comfort.

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