Amyotrophic Lateral Sclerosis (ALS): Symptoms & Causes

Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis or ALS or Lou Gehrig’s disease is a progressive neurodegenerative disease that indiscriminately damages the nerve cells in the brain and spinal cord causing loss of muscle control.

ALS Disease

ALS (Amyotrophic Lateral Sclerosis) is a serious neurological disease that continues to destroy the motor neurons – the nerve components responsible for controlling voluntary muscles. This over the years results in weakness, paralysis, and death.

ALS Symptoms

The symptoms of Amyotrophic Lateral Sclerosis (ALS) differ according to which client neuron is initially affected, but the condition always in some form progresses and deteriorate.

Early Symptoms (Subtle Onset):

These can develop rather slowly and are often missed.

• Hand/arm or leg/feet muscle weakness (e.g. dropping objects, tripping)
• One’s slurred speech of inability to form words
• Cramps and twitching (fasciculations) especially of arms, shoulders and tongue
• Carelessness or impairment with small movement (e.g., buttoning shirts)
• Difficulty lifting the front of the foot (foot drop)

Progressive Symptoms:

Among other systems, as ALS progresses, more are compromised:

Muscle-Related:

• Progressive muscle atrophy (wasting)
• Severe muscle stiffness (spasticity)
• Disadvantages spread to other parts of the body.
• One of Loss of voluntary movement (walking, grasping, lifting)

Speech and Swallowing:

• Increasing difficulty speaking (dysarthria)
• Difficulty swallowing (dysphagia)
• Choking and aspiration pneumonia danger risk

Breathing:

• Weakness of respiratory muscles
• Breathlessness, especially, when lying down.
• May require ventilatory support

Emotional and Cognitive:

• Emotional ability (loss of control of laughing or crying emotions)
• From 50% may show cognitive or behavioural changes.
• Some develop frontotemporal dementia

ALS Diagnosis

Diagnosing ALS (Amyotrophic Lateral Sclerosis) can be difficult, as it lacks a single test for diagnostic confirmation. Rather than a medical diagnosis, it is a clinical diagnosis of symptoms, neurological exam, and ruling out other conditions.

Steps in ALS Diagnosis:

Detailed Medical History & Physical Exam

Neurologist looks for:

• Muscle weakness
• Reflex changes (e.g., brisk reflexes)
• Muscle atrophy
• Spasticity or fasciculations (twitches)
• History of symptom progression

Electromyography (EMG)

• Detects electrical activity in muscles
• Discusses the pattern of denervation (loss of nerve supply) and reinnervation.
• Corrects dissemination of motor neuron damage

Nerve Conduction Studies (NCS)

• Indicates the speed and efficiency with which electrical signals are carried on nerves.
• Helps to eliminate peripheral nerve diseases (neuropathies)

MRI Scan

Exclusion of brain and spinal cord imaging:

• Tumors
• Multiple sclerosis (MS)
• Cervical spondylosis or herniated discs

Blood & Urine Tests

• Exclude infections, autoimmune diseases, vitamins deficit (e.g. B12), thyroid diseases.

Lumbar Puncture (Spinal Tap)

• An occasional procedure to rule out the CNS infections or inflammatory processes.

Genetic Testing

• If there is a family history of ALS
• Mutations in genes such as SOD1, C9ORF72, FUS or TARDBP checks

Cognitive and Behavioral Testing

• Test for frontotemporal dementia (FTD), which can co-exist with ALS

ALS Treatment

The Amyotrophic Lateral Sclerosis (ALS) as such does not have a cure, but a treatment manages disease progression, treats symptoms and maintains the quality of life.

Multidisciplinary Care Team:

• Patients derive the greatest benefit from coordinated care, that is;
• Neurologists
• Physical & occupational therapists
• Speech-language pathologists
• Respiratory therapists
• Dietitians
• Psychologists or counselors
• Palliative care specialists

Symptom Management:

Muscle Cramps & Spasticity:

• Baclofen, Tizanidine, Diazepam

Drooling (sialorrhea):

• Anticholinergics (e.g., glycopyrrolate)    
• Botox injections or radiation therapy in case of severe ones.

Depression or Anxiety:

• SSRIs or counseling

Sleep Disturbance:

• Sleep aids or ventilatory support if breathing problem causes it

Nutritional Support:

• High calorie diet to prevebt loss of weight
• When swallowing is unsafe, feeding tube (PEG) maybe suggested.

Respiratory Support:

• Non-invasive ventilation such as BiPAP improves comfort and survival.
• Mechanical ventilation in end stages (Optional as it’s based on the choice of the patient).

Physical, Speech & Occupational Therapy:

• Pause motion and be mobile with range of motion
• Improve safety and independence    
• Devices for speech loss communication (e.g: eye tracking tech)

Clinical Trials & Research:

New therapies under investigation include:

• Stem cell therapy
• Gene editing (e.g., CRISPR)
• Antisense oligonucleotides
• Immune and metabolic therapies

ALS Causes

The etiology of ALS (Amyotrophic Lateral Sclerosis) remains not fully understood but is postulated to be due to a combination of genetic, environmental, and biological causes leading to progressive motor neuron death.

Genetic Causes (~5–10% of cases) – Familial ALS (fALS):

Familial, inherited mutations transmitted in families. Important genes are:

• SOD1
• C9ORF72
• TARDBP
• FUS

Sporadic ALS (~90–95% of cases):

No evident family history; potential causes likely to be multi-factorial:

Environmental Triggers (hypothesized):

• Exposure to toxins (pesticides, heavy metals)
• Military service (associated with increased risk of ALS, potentially through exertion, trauma, or toxins)
• Cyanobacteria in contaminated water (e.g., BMAA neurotoxin)
• Workplace exposures (e.g., welders, farmers)

Lifestyle Factors (inconsistent evidence):

• Vigorous exercise (limited evidence in athletes)
• Smoking (slightly higher risk in some studies)
• Head trauma (tentative association, but not proven)

Biological Mechanisms:

Studies identify several failed systems in ALS:

• Glutamate toxicity: Too much glutamate overexcites neurons → death of cells
• Oxidative stress: Cell damage through free radicals injuring cells
• Protein aggregation: Pathological clumping of proteins (e.g., TDP-43, SOD1) in neurons
• Mitochondrial dysfunction: Cellular energy failure
• Impaired RNA processing: Loss of control of gene expression
• Neuroinflammation: Excessive immune response injuring neurons
• Axonal transport defects: Abnormal movement of nutrients/signals along nerves

ALS Therapy

Treatment for ALS (Amyotrophic Lateral Sclerosis) is a multimodal strategy to delay disease progression, address symptoms, and preserve independence and quality of life for as long as possible.

Pharmacological Therapies

Disease-Modifying Treatments:

• Riluzole: Glutamate activity reducer
• Edaravone (Radicava): Antioxidant to decrease oxidative stress
• Tofersen: Antisense treatment for SOD1 mutation
• AMX0035 (region some): Mitochondrial and ER-stress modulator

Supportive Therapies

Physical Therapy (PT):

• Preserves muscle strength and flexibility
• Prevents contractures at the joints
• Comprises range-of-motion exercises, stretching, gentle aerobic exercise

Occupational Therapy (OT):

• Assists to adjust to physical limitations
• Prescribes assistive devices (e.g., grabbers, braces)
• Home modification for safety and accessibility

Speech Therapy (SLP):

• Treats slurred speech and swallowing difficulties
• Teaches communication aids (speech-generating devices, eye-tracking technology)
• Swallowing strategies to avoid choking

Respiratory Therapy:

• Monitors breathing function (e.g., FVC tests)
• Introduces non-invasive ventilation (BiPAP) as required
• Suction and cough-assist devices assist with secretions

Nutritional Support

• High-calorie, high-nutrient diet to reverse weight loss
• Thickened liquids or soft food for safe swallowing
• Feeding tube (PEG) when eating is difficult

Psychological and Emotional Support

• Depression, anxiety, and grief counselling
• Support groups (patients and caregivers)
• Advance care planning and palliative care as appropriate

Experimental and Emerging Therapies

• Stem cell therapy (e.g., NurOwn) – in clinical trials
• Gene editing (e.g., CRISPR) – potential future
• Antisense oligonucleotides for genetic mutations
• Immunotherapies, metabolic interventions, cell-based neuroprotection

Multidisciplinary ALS Clinics

These provide coordinated care from experts, proven to enhance outcomes and survival.

ALS Life Expectancy

Life expectancy in ALS (Amyotrophic Lateral Sclerosis) is different from person to person, but it is usually regarded as a fatal and progressive illness with a median survival of 2 to 5 years from the onset of symptoms.

Average Survival Timeline:

2–5 years (mean): Most patients have values here

<2 years~50% of patients

>5 years~20% of patients

>10 years~5–10%

ALS Genetic Testing

Genetic testing for ALS (Amyotrophic Lateral Sclerosis) assists in the identification of inherited gene mutations that can cause the disease—particularly in familial ALS (fALS), but occasionally in sporadic ALS (sALS) as well.

When Genetic Testing Is Advised?

• Family history of ALS or frontotemporal dementia (FTD)
• ALS diagnosis at age less than 50
• Sporadic ALS with rapid progression or atypical features
• Prior to enrolling in clinical trials
• Family members of ALS patients with a known mutation

Why Choose GetWellGo for Amyotrophic Lateral Sclerosis Treatment?

GetWellGo is regarded as a leading supplier of healthcare services. We help our foreign clients choose the best treatment locations that suit their needs both financially and medically.

We offer:

• Complete transparency
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• Assistance in selecting India's top hospitals for amyotrophic lateral sclerosis treatment.
• Expert neurologist with a strong track record of success
• Assistance during and after the course of treatment.
• Language Support
• Travel and Accommodation Services
• Case manager assigned to every patient to provide seamless support in and out of the hospital like appointment booking
• Local SIM Cards
• Currency Exchange
• Arranging Patient’s local food