Dying Muscles: Understanding Als (Part 1)

The condition that claimed world-renowned individuals like the American baseball player Lou Gehrig and acclaimed physicist Stephen Hawking, ALS or Amyotrophic Lateral Sclerosis is a progressive neurodegenerative condition in which gradual nerve cell destruction in the brain and spinal cord leads to the eventual loss of all voluntary functions like speech, breathing, and motion. ALS can strike at any age, but commonly affects older individuals between 40-70 and is currently incurable.

How It Happens:

Motor neurons relay messages from the brain to bodily muscles via the spinal cord to help the muscles move. The message-relaying process slowly stops when these motor neurons start dying off. With no messages to instruct them, the muscles then slowly start weakening and deteriorating or ‘atrophying’, until they stop functioning altogether.

However, recent research has proven that ALS isn’t simply a motor neuron dysfunction but also an autoimmune anomaly in which the neurons are destroyed by toxic substances produced by the very cells that protect them.

Symptoms:

Early signs of the condition include:

• Difficulty walking
• Tripping and falling
• Weakness in hands, legs, feet and/or ankles
• Clumsiness and difficulty in performing detailed tasks like threading a needle
• Slurred speech
• Trouble swallowing
• Fasciculations (muscle cramps and twitching arms, shoulders and tongue)
• Difficulty maintaining a straight posture and looking up
• Abnormally fatigued arms and/or legs
• Uncontrollable periods of laughing or crying
• Spasticity (muscle tightness and stiffness)

Note: Not all individuals may experience the same symptoms.

Progression:

ALS can progress in two ways: reduced arm and leg function (Limb Onset ALS) or speech and swallowing issues (Bulbar Onset ALS). Degeneration may occur slowly over time in some individuals, while others may experience periods of no or minor changes followed by escalated degeneration. After a significant reduction in limb or throat and tongue function, muscles in other parts of the body start stiffening and spasming and breathing becomes difficult.

In later stages, all voluntary muscles become paralyzed; forcing the patient to turn towards external aid and adopt the full-time use of assistive devices like electronic wheelchairs for motion, portable ventilators for breathing, and automated devices for speaking. Bowel or bladder control, memory, thinking, decision-making, and sexual function are usually not affected.

Some patients only live for about three years, while most can live between 5-10 years post-diagnosis. A small number of patients are able to survive for over 10 years.

Types:

• Sporadic ALS occurs at random with no clearly defined cause or determinable risk factors and accounts for a majority of diagnosed cases. However, family members of those affected are at very low risk of developing ALS.
• Familial ALS is the inherited form of the disease that constitutes a small percentage of the ALS population. Children of parents with familial ALS have a 50% chance of developing the condition, as the defective gene is inherited by all offspring, even if only one parent is affected.

Causes:

While the exact cause is unknown, several possibilities include:

• Genetic Defects, particularly mutations in the genes responsible for causing frontotemporal dementia and producing the copper-zinc superoxide dismutase 1 enzyme for breaking down toxic substances, respectively. This is specific for familial ALS.
• Excess Glutamate, a known toxin for some nerve cells, has been observed in patients with ALS and is considered an important causative or catalytic factor of ALS.
• Mishandling Nerve Cell Proteins can lead to their gradual accumulation and eventual nerve cell destruction.
• Malfunctions in The Mitochondria, portions of the cells responsible for energy production, can cause or aggravate ALS.
• Oxidative Stress, e. the transformation of bodily oxygen may lead to ALS-related cellular damage.

Risk Factors:

In addition to a family history and advancing age, the following factors may increase the risk of disease development:

• Men under 70 have a slightly higher risk of disease development, after which probability is similar for both sexes.
• Menopausal women who smoke.
• Prolonged exposure to lead and other toxic substances.
• exposure to certain metals or chemicals, viral infections, traumatic injuries, and intense exertion put active and retired soldiers along with athletes at higher risk.

ALS may be incurable, but early detection helps prolong life expectancy and improve life quality. So, if you or a loved one experience any of the above symptoms, consult with your doctor immediately. At oladoc, you can find a Neurologist in Karachi, Rawalpindi, Multan and get an appointment. Moreover, you can also get an appointment by calling our helpline: 042-3890-0939.