When should I consider referring a patient with suspected ALS to a specialist, and what information should I include in the referral?

When to refer: Refer a patient without delay if you suspect amyotrophic lateral sclerosis (ALS), specifying the possible diagnosis in the referral letter. If urgent assessment is needed, contact the consultant neurologist directly. Consider referral particularly if the patient presents with progressive muscular weakness (including loss of dexterity, falls, speech or swallowing problems, tongue fasciculations), muscle symptoms (weakness, wasting, twitching, cramps, stiffness), respiratory symptoms (shortness of breath on exertion or unexplained respiratory symptoms), or cognitive/behavioural changes such as emotional lability or frontotemporal dementia features. Also, refer urgently if there is evidence of swallowing impairment or breathlessness at rest or when lying flat. For slowly progressive limb or neck weakness, referral for neuromuscular assessment is indicated ¹,².

Information to include in the referral: Clearly state the suspected diagnosis of ALS or motor neurone disease. Include detailed clinical features such as the nature and progression of muscle weakness, bulbar symptoms (speech, swallowing difficulties, tongue fasciculations), respiratory symptoms, cognitive or behavioural changes, and any relevant functional impairments. Mention any rapid progression or urgent symptoms like breathlessness or swallowing impairment. Provide relevant medical history and any initial investigations or assessments performed. This information helps the specialist neurologist prioritize and tailor the assessment and management ¹,².