Amyotrophic Lateral Sclerosis (ALS), also known as Motor Neuron Disease (MND) or Lou Gehrig’s Disease, is a disorder that is characterized by the progressive degeneration of neurons in the brain and spinal cord responsible for the voluntary control of muscle. Loss of these neurons and the resulting weakness that it produces causes ever increasing disability. Because the muscles of swallowing and or breathing are eventually affected, ALS is inevitably a life threatening disorder.
Onset is generally in the 50s, but significantly younger and older individuals may also be affected. Men are at a higher risk of developing ALS than women but the reason for this remains unclear.
Individuals with ALS may experience any of the following muscular or cognitive symptoms:
· Weakness, fatigue and or poor coordination of muscles of the hands, arms, feet, legs, trunk along with weakness of the swallowing, speaking and breathing muscles. Because of this, everyday activities such as walking, eating, dressing, bathing, toileting, swallowing, speaking and breathing become a progressive challenge.
· Muscle cramps and twitching (fasciculations) often accompany the weakness
· Pseudobulbar affect may cause ALS patients to cry and or laugh inappropriately and to have difficulty controlling these outbursts.
In about 10% of patients with ALS, there may be a concurrent disorder in regulating social behaviors and acting appropriately in front of others. Most often, this presents as a variant of Frontotemporal degeneration (FTD), although other disorders are not uncommon. Those affected by ALS and a concurrent cognitive disorder may have difficulty with managing their finances, acting appropriately in public, and showing concern for others. Specifically, you may notice:
· Executive difficulty, or problems in planning and completing complex activities, organizing, and problem solving. Individuals with executive difficulty may have problems with tasks like balancing a check book, doing the shopping, or preparing a meal.
· Disinhibition, which may present as hypersexuality, making inappropriate or embarrassing comments in social situations, or approaching strangers in public.
· Impulsiveness, such as shoplifting, uncontrollable gambling, or reckless spending.
· Complex rituals or fixations, like doing the laundry every day at the same time, eating foods in a particular order, or walking a set path through the house repeatedly. Individuals may become “stuck” on a particular topic, like birds or time, repeatedly tell stories, or have a set of fixed jokes, phrases, or comments that are repeated and do not change.
· Changes in appetite and food preferences, like craving and eating only desserts, eating or drinking uncontrollably, putting too much food in the mouth at one time, or attempting to eat non-food items.
· Apathy or inertia, showing little interest in their previous hobbies and interests or participating in group activities, such as family gatherings. Individuals may also have difficulty “getting going” to do activities like going to the store, getting dressed, or feeding oneself.
· Loss of empathy, or an inability to understand the needs and feelings of others. Individuals may seem cold and unfeeling, or unsympathetic to the concerns of loved ones.
· Lack of insight into why behaviors are inappropriate for the context and distressing to others
While there has been an abundance of research in recent years regarding the causes of ALS, there is no agreement on a singular cause for the disease. Although about 90% of ALS is considered sporadic and not caused by a specific gene mutation, 10% of ALS is genetic (Familial ALS or FALS) and caused by one of multiple identified gene mutations. FTD can occur in both sporadic and genetic ALS. In the case of genetic disease, the various mutations can cause ALS, FTD or ALS and FTD in multiple individuals within the same family passed down via dominant, recessive or X-linked inheritance. While the majority of sporadic and familial patients with ALS and FTD have accumulation of the protein TDP-43 in neurons and other cells when the brain and spinal cord are examined under the microscope (neuropathology), other identified proteins have been noted in other patients with both sporadic and familial ALS and FTD. The genetic and neuropathologic link between ALS and FTD strongly suggests a continuum between these two disorders.
Current therapies for the management of ALS are aimed at alleviating the symptoms and improving the patient’s quality of life as the disease progresses. The only FDA-approved medication designed specifically for the treatment of ALS, riluzole (Rilutek), slows progression of the disorder but only increases survival by up to one year.
Additional interventions come from an interdisciplinary team of healthcare providers who may assist patients and families adjust to managing and coping with the diagnosis.
Physical and occupational therapists may provide tools and lifestyle modifications to make families and patients more comfortable as everyday tasks like walking and dressing oneself become more challenging. In individuals who are having difficulty with speaking clearly, speech therapy and augmentative technologies may improve the patient’s ability to communicate. Nutritionists can recommend supplements to help patients maintain a healthy weight.