Amyotrophic Lateral Sclerosis (ALS)

ALS occurs in one of two distinct ways: limb onset or bulbar onset. Symptoms can start in one specific site (either limb or bulbar) or it is possible for symptoms to present in both simultaneously.

Limb Onset:

For many individuals, the first sign of ALS may appear in the hands or arms, known as limb onset. These patients present with difficulties performing tasks such as buttoning a shirt, writing, or holding and manipulating an object in their hand. As ALS progresses, individuals will experience challenges with walking or running, leading to wheelchair dependency.

Bulbar Onset:

Others may first present with signs of ALS in their throat and face, known as bulbar onset. These people experience difficulty with chewing or swallowing food, forming words, or have abnormal movements of the tongue. This makes it difficult to eat normally and increases the risk of choking. As these symptoms progress, affected individuals will experience issues with speaking and/or breathing. Respiratory failure is the most common cause of death in ALS.

ALS is most commonly diagnosed in people aged 40 years old into their mid-60’s. ALS is currently diagnosed by ruling out other neurological conditions in combination with symptom presentation. There are no diagnostic tools available to confirm a diagnosis of ALS, but there are some that can aid in its diagnosis:

• Electromyography (EMG)
• Nerve conduction velocity (NCV)
• Blood and urine tests looking at thyroid and protein levels, and the presence of heavy metals
• Spinal tap
• And other neurological examinations (e.g. magnetic resonance imaging (MRI))

These tests can all provide insight and aid in a diagnosis of ALS

The FDA has approved medications to slow the progression of ALS, but to date there are no treatments that stop the progression of ALS or reverse any neuron damage that has occurred. FDA approved medications that slow the progression of ALS include Rilutek (riluzole tablet), Tiglutik (riluzole liquid), Exservan (riluzole oral film), Relyvrio (sodium phenylbutyrate and taurursodiol), and Radicava (edaravone).  Nuedexta is indicated for the treatment of those ALS patients with pseudobulbar effect (PBA). Qalsody (tofersen), was approved in 2023 to treat ALS associated with a mutation in the superoxide dismutase 1 gene. Exservan is a newer formulation of riluzole that allows for extended use of riluzole in those with difficulties swallowing due to its oral biofilm technology. Patients typically also receive muscle relaxants, medications to inhibit secretions, and pain medication to manage other symptoms of ALS.

Patients may also receive intensive therapy to help manage their disease, including physical therapy, occupational therapy, speech therapy, respiratory therapy, and nutritional support.