Amyotrophic Lateral Sclerosis (ALS)

Overview

Amyotrophic Lateral Sclerosis (ALS), also known as motor neurone disease (MND), is a progressive neurological condition that affects the nerve cells responsible for voluntary muscle movements. Over time, ALS leads to muscle weakness, loss of function, and, eventually, paralysis. The Royal Buckinghamshire Hospital specialises in advanced neuro-rehabilitation to help patients manage symptoms and maintain independence for as long as possible.

Causes of ALS

ALS can be either sporadic or familial:

• Sporadic ALS: The most common form, with no known family history.
• Familial ALS: Inherited through genetic mutations, often in the SOD1, C9orf72 or FUS genes.
• Environmental Factors: Potential contributors include exposure to toxins, viral infections, and physical trauma.
• Abnormal Protein Aggregation: Disruption in the body’s ability to process certain proteins may lead to nerve damage.

Symptoms of ALS

ALS symptoms vary but often include:

• Muscle twitching and cramping
• Weakness in hands, arms, legs, or jaw
• Slurred speech or hoarseness
• Difficulty swallowing or breathing
• Weight loss
• Progressive paralysis
• Emotional lability or cognitive changes (in some cases)

Diagnosis

ALS can be challenging to diagnose due to symptom overlap with other neurological conditions. Diagnosis typically involves:

• Neurological Examination: Assessing reflexes, coordination, and muscle strength
• Electromyography (EMG) and Nerve Conduction Studies: Measuring electrical activity in muscles
• MRI Scans: To rule out structural causes of symptoms
• Blood and Urine Tests: Checking for metabolic disorders or infections
• Lumbar Puncture (if needed): To analyse cerebrospinal fluid
• Genetic Testing: If familial ALS is suspected

A confirmed diagnosis usually involves the progressive involvement of both upper and lower motor neurons, with the exclusion of other conditions.

Treatment & Management

Although there is no cure for ALS, our hospital offers an integrated care model:

• Neurological Rehabilitation with personalised care plans
• Respiratory Support such as non-invasive ventilation
• Physiotherapy and Occupational Therapy to maintain mobility and function
• Speech and Language Therapy for communication and swallowing
• Nutritional Support, including feeding options when necessary
• Palliative Care Services for symptom management and quality of life
• Emotional and Psychological Support for patients and families

Our Resident Neurologist

Dr Weatherall is very welcoming and highly experienced. He offers his patients sound diagnosis and treatment, along with individual care focused on their future health.

Dr Mark Weatherall

Consultant Neurologist

Field