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Symptoms and Diagnosis

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How Is ALS Diagnosed?

In addition to a complete medical history and physical examination, there are several diagnostic procedures for amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease.

Tests to diagnose ALS may include:

  • Laboratory tests including blood and urine studies and thyroid functioning tests
  • Muscle and/or nerve biopsy
  • Cerebral spinal fluid analysis (spinal tap), a procedure used to make an evaluation or diagnosis by examining the fluid withdrawn from the spinal column
  • X-rays
  • Magnetic resonance imaging (MRI), a way to image soft tissues that's noninvasive and that doesn't involve x-rays. MRI produces a sharp, two-dimensional view of the brain and spinal cord.
  • Electrodiagnostic tests (i.e., electromyography, or EMG, and nerve conduction velocity, or NCV), which are studies that evaluate and diagnose disorders of the muscles and motor neurons. Electrodes are inserted into the muscle, or placed on the skin overlying a muscle or muscle group, and electrical activity and muscle response are recorded.

If you have been given an ALS diagnosis, the Robert Packard Center for ALS Research at Johns Hopkins can provide you with a centralized location for information and education, along with access to clinical trials and an ALS community committed to understanding the causes of ALS, funding research, supporting ALS scientists and to finding a cure.

 

How is ALS Treated?

Currently, amyotrophic lateral sclerosis (ALS), has no cure. The FDA-approved drug, Rilutek, extends survival somewhat. 

Patients suffering from ALS can maximize their abilities and be made more comfortable with the following treatment or therapeutic options:

  • Medications to relieve painful muscle cramps, excess salivation and other symptoms
  • Heat or whirlpool therapy to relieve muscle cramping
  • Exercise, though recommended in moderation, to help maintain muscle strength and function
  • Physical therapy to maintain mobility and ease the discomfort of muscle stiffness, cramps and fluid retention
  • Nutritional counseling to promote optimal calories and dietary balance and to offer diet-based help when swallowing becomes difficult
  • Speech therapy to maintain as many verbal communication skills as possible and communication training to offer non-verbal techniques
  • Devices such as splints, corrective braces, grab bars, reach-extenders, etc. to help with daily activities such as dressing, eating, using the toilet and bathing
  • Special equipment such as wheelchairs, electric beds or mattresses to maximize functional independence

If you’re looking to confirm an ALS diagnosis, learn more about ALS clinical trials or seek medical care for the disease, please contact the Johns Hopkins Multidisciplinary ALS ClinicALS scientists at the Packard Center for ALS Research at Johns Hopkins are working aggressively through targeted research projects to uncover new ALS treatments and to find a cure.

Our Experts

University of Florida
Laura Ranumh as followed a large family with ALS for 20 years. Recently, she discovered that they carry the C9orf72 repeat expansion, and Ranum has spent the last several years working to decode the molecular genetics of this mutation. She helped to discover that the long DNA repeats in C9orf72 mucks up the cell’s ability to turn DNA into RNA and then into protein, creating small toxic peptides. 
Meet Our Experts

Our Experts

University of Michigan
Sami Barmada wants to answer a very basic question about ALS: why motor neurons? Of all the different types of neurons in the body (and scientists estimate there are probably several hundred), it’s only motor neurons that are affected in ALS. Knowing why this is, Barmada believes, could be the key to developing new potential treatments that could prevent the deterioration and death of motor neurons. 
Meet Our Experts