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Neuromuscular Diseases

Neuromuscular diseases affect the peripheral nerves, the neuromuscular junction or the muscles. Diagnosis rests on the neurological examination and, where indicated, referral for electrophysiological testing (EMG / nerve conduction studies).

Overview

The term ‘neuromuscular diseases’ covers a broad range of conditions affecting the peripheral nervous system and the muscles — from polyneuropathies and nerve entrapment syndromes to myopathies and myasthenia.

Their common feature is a disturbance in signal transmission from nerve to muscle, presenting with weakness, numbness or pain.

Symptoms

Symptoms depend on which part is affected (nerve, junction or muscle) and may progress gradually or fluctuate through the day.

  • Muscle weakness or easy fatigue
  • Numbness, tingling or a burning sensation
  • Muscle cramps, twitching or wasting
  • Difficulty walking or handling objects
  • Double vision or a drooping eyelid (in myasthenia)

Pain (neuropathic)

Neuropathic pain arises from damage or dysfunction of the nerves themselves and differs from ordinary musculoskeletal pain. It is often described as burning, electric-shock, pins-and-needles or a freezing sensation.

Managing it requires a specific approach: common painkillers are often insufficient, while medications that act on nerve excitability help, combined with topical treatments and rehabilitation.

Diagnosis & Referral for EMG

Work-up starts with a detailed neurological examination. Where appropriate, a referral is made for electromyography (EMG) and nerve conduction studies to identify the level and nature of the lesion. These tests are carried out at a partner diagnostic centre.

Blood tests, immunological screening or, less often, a nerve or muscle biopsy may be needed in addition.

Treatment approach

Treatment targets the underlying cause where possible (e.g. diabetes control, immunotherapy in myasthenia) and relieves symptoms.

Rehabilitation with physiotherapy, protecting entrapped nerves and managing neuropathic pain are core parts of an individualised plan.

When to see a neurologist

  • Rapidly progressing weakness or difficulty breathing or swallowing — seek immediate help
  • Persistent numbness or weakness that is worsening
  • Neuropathic pain that does not respond to common painkillers
  • Recurrent falls or unsteadiness when walking

Frequently asked

The information on this website is for general guidance only and does not constitute medical advice.

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