ALS (Amyotrophic Lateral Sclerosis/Lou Gehrig's Disease)

Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a motor neuron disease. Motor neuron diseases are characterized by the gradual, painless worsening of muscular function. They differ from other types of neuromuscular diseases in that some motor neuron diseases combine elements of both peripheral and central nervous system dysfunction.

Motor neuron diseases are characterized by muscle weakness, stiffness, and deterioration (atrophy). Progression of motor neuron diseases varies dramatically both within the category as well as within the particular condition. For instance, some motor neuron diseases affect the ability to speak or swallow early on, while for others, difficulties in speech and swallowing may not arise until late in the course of the disease.

Types of motor neuron diseases

The most common motor neuron diseases are:

  • ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease), characterized by a combination of weakness, atrophy, and muscle stiffness (spasticity). A subgroup of ALS patients is most heavily affected by speech and swallowing difficulties from early on (bulbar dysfunction).
  • SMA (spinal muscular atrophy), a diverse group of motor neuron diseases that are relatively rare in comparison to ALS. Some people with SMA have normal muscle tone, while others experience significant atrophy. Most experience no difficulty with speech or swallowing.

    SMA can be inherited, with symptoms occurring in childhood or adolescence. Other forms are acquired in adulthood. SMA is a progressive illness, with the course of the disease taking place over many years, even decades.
  • PLS (primary lateral sclerosis), characterized by gait problems and stiffness. Speech and swallowing problems may occur, though not until late in the disease progression. Individuals with PLS typically experience a very slow progression in symptoms, usually over the course of decades.

We can help

Patients with ALS, SMA, and PLS require increasing care as their disease progresses. Treatment is prescribed on a case-by-case basis, depending on symptoms and personal circumstances. Medication may be prescribed for the relief of stiffness and other symptoms. Physical therapy may be recommended to maintain function and help you feel better.

The Mount Sinai Health System in New York City has more than 30 years’ experience in diagnosing and treating motor neuron diseases. Our multidisciplinary approach means that you will be evaluated by several medical specialists rather than just one. We can identify the particular motor neuron disease responsible for your symptoms and prescribe the most appropriate treatment for your unique circumstances.

Our clinical examinations include careful radiologic evaluations as well as laboratory studies. We supplement these with careful clinical neurophysiologic testing, including nerve conduction studies and a needle EMG evaluation. On rare occasions these tests may not yield definitive answers. In those cases we take a muscle biopsy (tissue sample) for diagnostic purposes. We may also require MR spectroscopy — a special MRI that shows changes in the levels of certain chemicals in your brain.

Mount Sinai provides rehabilitation services to suit your needs as well as nutritional evaluations and guidance. We also provide pulmonary care, if needed.

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