Early symptoms of motor neurone disease (MND): what to look for and when to see a GP

Motor neurone disease affects the motor neurones, the nerve cells in the brain and spinal cord that tell muscles what to do. The NHS says that in MND these cells stop working properly, causing muscle weakness that gets worse over a few months or years. NHS inform describes motor neurones as controlling activities like gripping, walking, speaking, swallowing and breathing.

MND is rare, and most people who notice a twitch or a clumsy hand do not have it. The reason for describing the early symptoms is so that persistent, progressive changes are not ignored, not to cause alarm about passing ones.

The NHS lists three groups of symptoms you may have at first. They tend to be painless, as NHS inform notes for the limb symptoms.

• Stiff or weak hands: problems holding or gripping things, or dropping objects.

• Weak legs and feet: finding stairs difficult, tripping over a lot, or difficulty lifting or moving the foot (foot drop).

• Twitches, spasms or muscle cramps, where muscles painfully tighten.

• Weakness at the shoulder, making it difficult to lift an arm above the head, according to NHS inform.

• Slurred speech or difficulty swallowing, as the first sign in some people (bulbar onset).

The NHS describes four main types of MND, each affecting different parts of the body in the early stages. Amyotrophic lateral sclerosis (ALS) is the most common and causes weakness in the arms and legs that can lead to tripping and dropping things. Progressive bulbar palsy mainly affects the face, throat and tongue, causing slurred speech and swallowing problems. Progressive muscular atrophy begins with weakness in the hands, and primary lateral sclerosis with weak legs, sometimes with speech problems.

NHS inform describes the onset patterns. Limb-onset disease accounts for about two-thirds of people. In bulbar-onset disease, increasingly slurred speech is usually the first sign and may be misdiagnosed as a stroke, and swallowing difficulty may be mistaken for a blockage in the throat. In rare cases, respiratory-onset disease begins with breathlessness, poor sleep or morning headaches.

As the condition progresses, NHS inform says there may also be muscle wasting, stiffness, excess saliva, emotional changes such as sudden uncontrollable crying or laughter, and changes in thinking or behaviour in some people. These are not early symptoms for most people.

The NHS says early symptoms of MND such as twitches and weakness can be similar to other, less serious conditions, so the pattern matters. NHS inform says that in MND the limb weakness can come with widespread twitching of the muscles (fasciculations) or cramps and with wasting of the muscles. The NHS advises seeing a GP for twitches or muscle cramps that keep happening, last a long time or do not go away.

Weakness that is getting worse, with or without twitching, is the feature that needs assessment, which is why the NHS lists weak grip and weak legs or feet alongside twitches and cramps.

The NHS advises seeing a GP if you have difficulty holding or gripping objects, weakness in your legs or feet, or twitches or muscle cramps that keep happening, last a long time or do not go away. NHS inform says that being referred to a specialist as early as possible can help you access the right support.

NICE guidance for professionals says that if MND is suspected the person should be referred without delay, and that unexplained weakness may first appear as isolated symptoms such as loss of dexterity, falls or trips, speech or swallowing problems, or tongue fasciculations. It also notes that breathing symptoms such as breathlessness lying flat, early morning headache and daytime sleepiness can occur.

If you have sudden difficulty breathing, choking, or sudden loss of strength, treat it as an emergency and call 999.

The NHS says that if a GP thinks you might have MND they may refer you to a neurologist for assessment and tests. NHS inform explains that MND is usually diagnosed by a neurologist on the basis of the symptoms and a physical examination, and that tests are used to rule out other causes.

Tests can include blood tests, an MRI scan of the brain and spinal cord, electromyography (EMG), which measures the electrical activity in the muscles, and nerve conduction tests. Lumbar puncture and, rarely, muscle biopsy are used in some cases, and gene tests can support the diagnosis in some individuals, according to NHS inform.

The NHS says MND can be difficult to diagnose in the early stages but can usually be confirmed as symptoms worsen. NHS inform adds that confirming the diagnosis can be time-consuming even for an experienced neurologist, who may need a period of observation, and that MND can only be diagnosed if symptoms are clearly progressive. Conditions that can look similar include a trapped nerve in the spine, peripheral neuropathy and, for speech and swallowing problems, narrowing or inflammation of the gullet or voice box problems.

The NHS says there is currently no cure for MND, but treatments can ease symptoms and help you have the best quality of life possible. Riluzole can help slow progression in amyotrophic lateral sclerosis, and other medicines ease stiffness, cramps, drooling and breathlessness. Care is provided by a team that may include a specialist nurse, neurologist, physiotherapist and occupational therapist, with speech and language therapy and dietary support as needed.

NHS inform says that after diagnosis you should be given contact details for an MND care specialist, and the NHS lists the Motor Neurone Disease Association as a source of information and support for those affected, including family members.