Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
There are unfortunate inconsistences between the use of the terms 'motor neurone disease' and 'amyotrophic lateral sclerosis'.
In the UK, motor neurone disease is just one of many motor neurone diseases. Motor neurone diseases is used to define a group of disorders in which there is preferential degeneration of motor neurones. This group of disorders includes motor neurone disease, polio, multifocal motor neuropathy with conduction block and others. Motor neuron disease is the most common of the motor neurone diseases. Motor neurone disease is distinguished from these other motor neurone disorders of the basis of aetiology (including genetics), clinical features, histopathology and electrophysiology. Motor neurone disease is then further categorised depending on the regions of the body involved and the distribution of upper and lower motor neurone diseases. The most common variant of motor neurone disease is amyotrophic lateral sclerosis which refers to motor neurone disease affecting the spinal and bulbar motor neurones with mixed upper and lower motor neurone features.
In the USA, the terms motor neuron disease and amyotrophic lateral sclerosis are truely interchangable.
In American English 'neurone' is spelt 'neuron'. While this is trivial in clinical practice it is of relevance when searching the literature.
| Subclassifications | Epidemiology | Clinical features |
|---|---|---|
| Amyotrophic lateral sclerosis | None | Weakness Fasciculations Tongue fasciculations |
| Progressive muscular atrophy | None | |
| Primary lateral sclerosis | None | |
| Progressive bulbar palsy | None |
| Gene | ||
|---|---|---|
| C9orf72 | Search ClinVar | Search ClinGen |
| TARDBP | Search ClinVar | Search ClinGen |
| FUS | Search ClinVar | Search ClinGen |
| SOD1 | Search ClinVar | Search ClinGen |
Motor neurone disease may cause the following:
Management is primarily supportive. Riluzole is thought to improve survival by a number of months.
As the disease progresses, complications associated with neuromuscular ventilatory failure, dysphagia or prolonged immobility generally lead to death.