• ALS 101
    • Apr 24, 2017

    What is ALS and How is it Diagnosed?

What is ALS?

Amyotrophic lateral sclerosis, or ALS, is a disease that causes motor neurons in the brain and spinal cord to decay over time. Motor neurons are in charge of muscle movement throughout the body. As ALS progresses, these motor neurons begin to die, causing the brain to lose its ability to control and initiate muscle movement.  Those affected by ALS lose their ability to move their muscle voluntarily, affecting their ability to speak, eat, move, and breathe.

ALS is the most common motor neuron disease, mainly affecting adults between the ages of 40 and 60, with men being one-and-a-half times more likely to have the disease than women.

There are two types of ALS: familial and sporadic.

  • Familial ALS (FALS): the disease is inherited, with a 50% chance of each offspring inheriting the gene mutation that can lead to the development of ALS; accounts for 5 to 10 percent of all cases of ALS in the US.
  • Sporadic ALS: the disease can affect anyone, occurring randomly; accounts for 90 to 95 percent of all cases of ALS.

How is ALS Diagnosed?

ALS is a difficult disease to diagnose because there is no single test or procedure that can define the disease. Through a clinical exam, that includes the following, an ALS diagnosis can be determined:

Electrodiagnostic tests including electromyography (EMG) and nerve conduction velocity (NCV)

Blood and urine studies including high-resolution serum protein electrophoresis, thyroid, and parathyroid hormone levels and 24-hour urine collection for heavy metals

  • Spinal tap
  • X-rays, including magnetic resonance imaging (MRI)
  • Myelogram of the cervical spine
  • Muscle and/or nerve biopsy
  • A thorough neurological examination.

In its early stages, ALS may mimic several other neurological diseases. Patients should also seek a second opinion from an ALS expert – someone who diagnoses and treats many ALS patients and one who also may be preforming ALS research.

How is ALS Treated?

No cure has been found for ALS yet. Despite this, there are treatment options that can help slow down ALS progress, control symptoms, prevent complications, and allow patients to feel more comfortable and independent, making it easier to live with the disease.

In most cases, those diagnosed with ALS will require a team of doctors trained in many areas, as well as other health care professionals. These teams will design an individualized treatment plan for the affected. These treatment plans may include medications. There are currently two types of medication that have been approved by the FDA to help treat ALS:

  • Riluzole (Rilutek): This drug is believed to reduce damage to motor neurons, slowing down the progressing in some people, by lowering levels of glutamate that is often present in higher concentrations in people with ALS. Riluzole has been shown to prolong survival by a few months but does not reverse the damage already done to motor neurons.
  • Edaravone (Radicava): This drug has been shown to reduce the decline in the daily functioning that is associated with ALS.

A patient’s doctor may also prescribe medication that helps provide relief from other symptoms, like:

  • Muscle cramps and spasms
  • Spasticity
  • Fatigue
  • Constipation
  • Excessive salivation and phlegm
  • Pain
  • Depression
  • Sleep problems

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