Description

ALS (Amyotrophic Lateral Sclerosis) is also known as Lou Gehrig’s Disease, named for a famous baseball player who developed the disease in the 1930s. It is the most common form of a group of neurodegenerative disorders categorized as Motor Neuron Diseases. It affects the motor system cells in the spinal cord and brainstem as well as controlling central nervous motor system cells in the brain. Characteristically the presentation involves weakness and atrophy of muscles of the extremities or those controlling speech production, deglutition (swallowing), and breathing. Much remains unknown about the underlying factors leading the development of ALS. About 5 to 10 % of patients have an inherited form of the disease.

Symptoms

ALS usually starts with weakness of musculature in the extremities but may begin in muscles controlling speech and deglutition. Muscle twitching (fasciculation) and cramping may also accompany the muscle weakness. Sensation, eye movement and bowel/bladder function are usually not affected. Weakness may start very focally and unilaterally or begin segmentally and asymmetrically gradually spreading to the other side or to contiguous adjacent parts of the body. On occasion cognitive symptoms may develop but most patients remain cognitively intact.

Diagnosis

Diagnosis begins with a comprehensive history to delineate symptoms and a comprehensive neurologic exam to evaluate for weakness, atrophy, fasciculation, and signs of central nervous system motor dysfunction and pathological reflexes.  EMG (electromyography) with nerve conduction studies is the essential tool of diagnosis. Imaging studies of the brain and spinal cord as well as metabolic studies may be necessary to exclude other mimicking illness. Early in the disease these studies may not give a definitive answer regarding the specific diagnosis.

Treatment

Unfortunately, there is no effective medical treatment to cure the disease. Rilutek (riluzole), an oral medication approved in 1995, Radicava (edaravone), an intravenous infusion approved in 2017, and sodium phenylbutyrate and taurursodiol (Relyvrio), an oral medication approved in 2022, may delay progression and extend survival by a few months. Currently symptomatic treatment with physical therapy, occupational therapy, speech therapy, respiratory therapy and dietary and nutritional support in a multi-disciplinary center is the mainstay of treatment. Psychosocial support for both patient and family is important. Research for more effective treatment is ongoing.