The ALS clinic at The University of North Carolina at Chapel Hill

About Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis or ALS, also known as Lou Gehrig disease, is a serious neurological disorder that is frequently fatal. ALS affects the motor nervous system, leading to voluntary muscle weakness, and can affect, in about 50% of cases, behavior and cognition. Patients with ALS typically present with hand or foot weakness (limb onset ALS) or trouble speaking or swallowing (bulbar onset ALS). The disease is progressive and spreads from one limb to another. Muscle twitching is almost always present. Serious complications arise when the disease affects the swallowing muscles which can lead to aspiration pneumonia or when it affects the respiratory muscles. A form of progressive dementia called frontotemporal dementia may emerge in some ALS patients. The patient’s behavior and cognition may be affected and the patient’s family or friend may notice personality changes, disinhibition, uncontrollable laughter or crying, word finding difficulties and executive impairments. Median survival of ALS patients is 2-5 years but 20% of patients survive beyond 5 years.

Associated symptoms

Non-motor symptoms in ALS patients are common and are a direct result from the weakness. Sensory complaints are not typical but patients may have muscle or joint pain because of decrease in mobility, cramps and occasional numbness and tingling. Constipation is frequent. Patients may notice increase in their saliva and drooling. Insomnia can occur because of difficulty turning in bed, anxiety and depression. Stomach discomfort or liver disease may occur as a side effect of Riluzole, a medication used to slow down the progression of ALS.

Diagnosing ALS

ALS diagnosis is made by a neurologist with expertise in neuromuscular disorders. The diagnosis can be difficult to make, especially early in the disease. This explains why almost half of patients with ALS are initially misdiagnosed. In addition, about 15% of patients with a different condition are initially told they have ALS. A number of other diseases may mimic ALS making a comprehensive diagnostic evaluation important. Diseases that may mimic ALS include: Multifocal motor neuropathy, cervical myelopathy with radiculopathy, benign fasciculation syndrome, post-polio syndrome, spinobulbar muscular atrophy, late onset Tay-Sachs disease, paraneoplastic and autoimmune motor neuropathies, etc.

During the visit, the patient should expect a detailed neurological history, a thorough physical and neurological examination, blood tests, genetic testing, nerve conduction studies and electromyography and MRI imaging. These different investigation methods can help assess whether the patient has ALS or a condition that may mimic ALS.

Living with ALS

Living with ALS is challenging for the patient, their family and their friends. Patients may have to change their life goals. Living life fully is still possible and one should not give up hope as research in the field is advancing at a fast pace. Although the disease is progressive, there are, in general, no surprises; meaning that there is no sudden paralysis or inability to move the arm or leg.

Visiting a multidisciplinary ALS clinic every 2-3 months can help maintain a good quality of life, prevent potentials complications, and has been shown to prolong life by an average of 12 months. The multidisciplinary team will evaluate and treat both the motor and non-motor ALS symptoms, the behavioral and cognitive aspects of ALS. The multidisciplinary team consists of a physician with expertise in ALS disease, a neurologist with expertise in frontotemporal dementia, a physical therapist, an occupational therapist, a respiratory therapist, a speech therapist, a registered dietician, a social worker, a clinic administrator and an ALSA and or a MDA representative. The ALS clinic also works closely with the genetic department who provide whole exome capture, a gastrointestinal physician when a peg tube is needed and a pulmonary physician if tracheostomy is being considered (tube placed through the windpipe to take over breathing when diaphragm muscles become weak).

Links of Interest:

ALS registry

North Carolina ALS association

Northeast ALS Consortium (NEALS)