Diagnosing ALS is a detailed and often complex process, as there is no single test for the disease. Medical professionals rely on a combination of clinical evaluation, diagnostic tests, and a thorough examination of symptoms to reach a diagnosis.

1. Clinical Evaluation: The first step in diagnosing ALS typically involves a detailed medical history and a comprehensive neurological examination. A doctor will assess muscle strength, reflexes, coordination, and muscle tone. Early symptoms, such as muscle weakness, stiffness, or twitching, are carefully noted, alongside any speech or swallowing difficulties.

2. Electromyography (EMG) and Nerve Conduction Studies (NCS): These tests are crucial in the ALS diagnostic process. EMG measures the electrical activity of muscles, detecting abnormalities that may suggest ALS. NCS, on the other hand, evaluates the speed and strength of signals travelling along nerves, helping to rule out other conditions that mimic ALS, such as peripheral neuropathy.

3. Magnetic Resonance Imaging (MRI): While an MRI cannot diagnose ALS directly, it plays a key role in excluding other neurological conditions, such as brain or spinal cord tumours, multiple sclerosis, or a herniated disc, that may present similar symptoms.

4. Blood and Urine Tests: These tests are conducted to rule out other conditions that could be causing the symptoms. In some cases, specific genetic tests may be performed if there is a family history of ALS, to check for known mutations associated with the disease.

5. Spinal Tap (Lumbar Puncture): In some cases, a spinal tap may be performed to analyse the cerebrospinal fluid surrounding the brain and spinal cord. This can help rule out infections or other conditions that might mimic ALS.

6. Second Opinions and Specialist Consultations: Given the complexity of ALS, many patients seek a second opinion or consult with specialists in neuromuscular disorders. This ensures that the diagnosis is accurate and that all other possible causes have been thoroughly investigated.

ALS is a diagnosis of exclusion, meaning that doctors must first rule out other conditions before confirming ALS. This careful and systematic approach ensures that patients receive the most accurate diagnosis and the best possible care plan.

While there is currently no cure for ALS, treatment focuses on managing symptoms, slowing disease progression, and enhancing quality of life. A comprehensive approach involving a team of healthcare professionals is essential for effective ALS care.

1. Medications: Several medications are available that can help manage ALS symptoms and potentially slow the disease’s progression. Riluzole is one of the most commonly prescribed drugs, believed to reduce damage to motor neurons by lowering glutamate levels in the brain. Another medication, Edaravone, may slow the decline in daily functioning for some patients. Additionally, medications can be prescribed to manage symptoms like muscle cramps, spasticity, and excessive saliva production.

2. Physical Therapy: Physical therapy plays a crucial role in maintaining mobility and muscle function for as long as possible. A physical therapist can develop a personalised exercise program that helps preserve strength, flexibility, and range of motion, while also addressing issues like spasticity and muscle stiffness. As the disease progresses, assistive devices such as braces, walkers, and wheelchairs may be recommended to aid mobility.

3. Occupational Therapy: Occupational therapists work with patients to modify daily activities and adapt the home environment, making tasks easier and safer. This might involve the use of specialised tools and equipment to assist with dressing, eating, and other daily activities. They can also provide strategies to conserve energy and reduce fatigue.

4. Speech Therapy: As ALS affects the muscles involved in speech and swallowing, speech therapy becomes an integral part of treatment. Speech therapists can help patients maintain communication skills and suggest alternative communication methods, such as speech-generating devices, when necessary. They also provide techniques to assist with safe swallowing, reducing the risk of choking or aspiration.

5. Nutritional Support: Maintaining proper nutrition is vital for ALS patients, as muscle weakness and swallowing difficulties can make eating challenging. A dietitian can provide guidance on high-calorie, easy-to-swallow foods to ensure adequate nutrition. In some cases, a feeding tube may be recommended to support nutritional intake.

6. Respiratory Care: As ALS progresses, respiratory muscles weaken, leading to difficulty breathing. Non-invasive ventilation, such as a BiPAP machine, can assist with breathing, especially at night. In advanced stages, some patients may require a tracheostomy for long-term mechanical ventilation to support breathing.

By addressing the diverse needs of ALS patients through a multidisciplinary approach, medical professionals aim to improve comfort, extend mobility, and enhance overall quality of life throughout the progression of the disease.