Motor Neurone Disease

• Motor neurone disease is a term that encompasses a variety of specific diseases affecting the motor nerves.
• Motor neurone disease is a progressive, eventually fatal condition where the motor neurones stop functioning.
• There is no effect on the sensory neurones in motor neurone disease.
• Sensory symptoms suggest an alternate diagnosis.
• Amyotrophic lateral sclerosis ( ALS ) is the most common and well-known type of motor neurone disease.
• Stephen Hawking had amyotrophic lateral sclerosis.
• Progressive bulbar palsy is the second most common form of motor neurone disease.
• Progressive bulbar palsy primarily affects the muscles of talking and swallowing (the bulbar muscles).
• Other types of motor neurone disease to be aware of are progressive muscular atrophy and primary lateral sclerosis.
• Motor neurone disease involves a progressive degeneration of both the upper and lower motor neurones.
• The sensory neurones are spared in motor neurone disease.
• The exact cause of motor neurone disease is unclear, although several mechanisms have been considered.
• Many genes have been linked with an increased risk of developing the condition of motor neurone disease.
• Family history is important as around 5-10% of cases of motor neurone disease are inherited.
• There seems to be an increased risk of developing motor neurone disease with smoking and exposure to heavy metals and certain pesticides.
• Management of motor neurone disease involves supporting the person and their family, breaking bad news effectively and supportively, multidisciplinary team (MDT) input to support and maintain their quality of life, symptom control, advanced directives to document their wishes as the disease progresses, and end-of-life care.
• The weakness of muscles in motor neurone disease is often first noticed in the upper limbs.
• Patients with motor neurone disease may complain of clumsiness, dropping things more often or tripping over.
• Patients with motor neurone disease tend to die of respiratory failure or pneumonia.
• The typical patient with motor neurone disease is a late middle-aged man, possibly with an affected relative.
• Non-invasive ventilation (NIV) can be used to support breathing when the respiratory muscles weaken.
• The diagnosis of motor neurone disease needs to be made very carefully, based on the clinical presentation after excluding other conditions.
• Signs of upper motor neurone disease include increased tone or spasticity, brisk reflexes, upgoing plantar reflex.
• Signs of lower motor neurone disease include muscle wasting, reduced tone, fasciculations (twitches in the muscles), reduced reflexes.
• Motor neurone disease causes insidious, progressive weakness of the muscles throughout the body, affecting the limbs, trunk, face and speech.
• Motor neurone disease can lead to the development of slurred speech (dysarthria).
• Motor neurone disease can cause increased fatigue when exercising.
• Riluzole can slow the progression of the disease and extend survival by several months in ALS.