Motor-neurone disease

Motor-neurone disease (MND) is not one disease. This term refers to a group of disorders that destroy motor neurons, the nerve cells that control the actions of voluntary muscles used in breathing, swallowing, walking etc.

MND is a relentless, progressive disorder, with only 10% of patients surviving 10 years. There are notable exceptions though, like well-known theoretical physicist and cosmologist Prof Steven Hawkins.

Neuroanatomy
Nerves conduct electrical impulses that control activity in the muscles. The distance between the brain and the muscle concerned may be great, for example the nerves to the toes.

To ensure effective conduction and prevent signal loss, nerve conduction uses a system of relays, where the signal from the brain is relayed across a junction (synapse) to the next nerve, which eventually connects to the muscle. This last, or "final-pathway" nerve, is called the "lower motor neurone", and the one before it (higher up in the chain and closer to the brain) is called the "upper motor neurone".

Damage to the upper motor neurone causes:

• Spasticity
• Very brisk reflexes
• Abnormal reflexes like Babinski's sign

Lower motor neurone damage results in:

• Muscle weakness
• Muscle wasting
• Muscle twitching (fasciculation)

Patients with MND show a mixture of upper and lower motor neurone problems.

Incidence and causes
Motor neurone disease occurs in 1 - 5 per 100,000 people, with typical onset at 50 - 70 years. Early-onset cases affect men more than women, with rare cases appearing in patients in their 20s.

90% of cases are sporadic, while 10% have a family history of MND.

The recognised types of motor neurone disease include:

• Amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease)
• Progressive muscular atrophy
• Primary lateral sclerosis
• Progressive bulbar palsy

There's no known cause for MND, though there has been speculation about whether certain nerve toxins in some diets, or having received a bad electrical shock, could contribute. Neither has been proved.

Symptoms
Initial symptoms will vary according to which set of motor neurons is first affected. Muscle groups of the upper extremity, such as hand, arm or shoulder, may be affected first. Symptoms may include:

• Weakness of the hand
• Difficulty with fine movements like fastening buttons, using a knife and fork, writing
• Difficulty lifting things
• Stiffness and tremor

Muscle groups in the lower body affected by MND cause:

• Spastic walk or foot drop
• Poor balance
• Muscle twitching and spasms
• Stumbling (if knees give way, or tripping easily)

Bulbar functions can be affected in MND of the swallowing muscles:

• Speech slurring - often worsening as the day progresses
• Difficulty swallowing, especially thin liquids - causes choking
• Muscle spasm preventing mouth opening - if severe, called trismus

Pseudo-bulbar affect is common in MND, producing:

• Inappropriate emotional responses - laughing or crying
• Frequent yawning

Involvement of the diaphragm causes difficulty breathing - at first, breathlessness when speaking, but later even at rest.

Eye muscles may be affected, causing visual difficulties, though this usually happens late in the disease, and is often found in patients who are being mechanically ventilated. These patients may survive long enough for almost every muscle group in the body to be affected, making it impossible for them to move any voluntary muscle. This is called a "locked-in syndrome", in which patients are awake and alert, but cannot communicate in any way.

Cognitive: 15 - 50% develop fronto-temporal dementia.

Autonomic symptoms such as constipation may occur, which is worsened by the inability to effectively swallow liquids. Delayed stomach emptying can cause bloating. Urinary incontinence is NOT common.

Progression, treatment and survival
Symptoms gradually worsen in whichever muscle group is first affected. The disease spreads in an organised way until all four limbs are affected, and finally bulbar muscles (swallowing and breathing) are also included. Involvement of these bulbar muscles eventually causes life-threatening problems, such as respiratory failure or severe aspiration pneumonia.

The average survival of MND patients is 3 - 5 years from diagnosis. 10% live for 10 years or more.

There is no cure for MND, but aggressive management may relieve the problems of daily living, and extend the quality of life for some time.

Tube feeding via a tube that's surgically implanted directly into the stomach, together with assistance in disposing of saliva, can maintain life and ensure nutrition and hydration. Mechanical ventilation in the form of a respirator is an expensive option that may extend a patient's life for several years.