Motor Neurone Disease (MND/ALS)

MOTOR NEURONE DISEASE (MND) is the name given to a group of related diseases affecting the motor neurones in the brain and spinal cord. Motor neurones are those nerve cells that control muscles, and their degeneration leads to weakness and wasting of muscles, causing increasing loss of mobility in the limbs, and difficulties with speech, swallowing and breathing.

Progress is relentless and generally rapid, with a life expectancy of between two and five years from the onset of symptoms. Approximately 20% of patients can survive for 5-10 years but the rate of progression varies greatly from one person to another. Death usually occurs due to respiratory failure.

The incidence of MND is 2 per 100,000 of total population, while prevalence is six per 100,000 of total population. Research has found that the incidence is higher in people aged over 50 years. Only 10% of cases are familial (inherited) with the remaining 90% sporadic. The male to female ratio is 2:1.

SYMPTOMS OF MOTOR NEURONE DISEASE
The symptoms of motor neurone disease usually follow a pattern that falls into three stages:

  • the initial stage
  • the advanced stage
  • the end stage

Initial symptoms

The initial symptoms of motor neurone disease usually develop slowly and subtly over time. It can be easy to mistake early symptoms for those of several unrelated conditions that affect the nervous system.

Limb-onset disease

The initial symptoms of limb-onset motor neurone disease include:

  • a weakened grip, which can cause difficulties picking up or holding objects
  • a general feeling of tiredness
  • muscle pains and cramps
  • muscle twitches
  • weakness in the arms or legs
  • a feeling that you have become much more clumsy than usual, such as always tripping over

Bulbar-onset disease

The most common initial symptom of bulbar-onset disease is that your speech is increasingly slurred (dysarthria) as the person can't control his tongue properly. Tongue may become noticeably smaller and start to twitch. As the condition progresses, speech problems become significantly worse and will also have difficulties swallowing (dysphagia).

Respiratory-onset disease

In some cases of respiratory-onset motor neurone disease, the initial symptoms are obvious, such as breathing difficulties and shortness of breath. In other cases, the symptoms are less noticeable, such as waking up frequently during the night because the person’s body is temporarily starved of oxygen when lying down. This in turn can make the person feel very tired the next morning, may also wake up early in the morning with a headache.

Advanced symptoms

As motor neurone disease progresses to an advanced stage, the differences between the various types of disease are less noticeable as numerous parts and functions of the body are affected.

Muscle weakness

The limbs become progressively weaker and the muscles in the limbs begin to shrink. As a result, will find it increasingly difficult to move the affected limbs.

Muscle spasms

The twitching in the muscles will get worse, and it's likely that person will experience muscle spasms or twinges. Certain muscles in the limbs may become unusually stiff (spasticity).

Pain

The combination of muscle spasms and stiffness can lead to episodes of pain in the muscles and joints.

Difficulties swallowing

As the condition progresses, problems with the swallowing will start and will deteriorate the condition further.

Difficulty communicating

Many people with motor neurone disease eventually find it increasingly difficult to control the muscles of their throat and mouth, making it hard to talk.

Excessive drooling

Person may have problems controlling the amount of saliva it produces, which can cause excessive or constant drooling of watery saliva.

Excessive yawning

Some people with motor neurone disease have episodes of uncontrollable, excessive yawning, even when they're not tired. This can sometimes cause jaw pain.

Emotional changes

Motor neurone disease doesn't usually affect a person’s intelligence, but it can lead to changes in their personality and emotional state. One of the most common signs is when a person has episodes of uncontrollable crying or laughter (Emotional lability). There's often no connection between these episodes and a person’s emotional state or immediate environment. For example, someone with emotional lability may break into uncontrollable laughter when watching a news report about a serious incident, such as an air crash.

Changes to mental abilities

Occasionally, people with motor neurone disease may have difficulties with memory, learning, language and concentration. This is known as cognitive change. Some of these changes may be quite subtle, making it difficult to tell them apart from the normal ageing process.

Breathing difficulties

As the nerves and muscles that help control the lungs become progressively more damaged, breathing will become increasingly difficult. This usually starts as a feeling of being very short of breath after doing everyday tasks, such as walking up the stairs. Over time, person may become very short of breath even when resting. This shortness of breath may be particularly troublesome at night. Some people find it difficult to breathe when they're lying down. Others wake up suddenly in the night due to breathlessness. If the condition further deteriorates, persons might require mechanical assistance to support the breathing.

Secondary symptoms

Some people with motor neurone disease have additional symptoms that aren't directly caused by the condition but are related to the stress and anxiety of living with MND.

These secondary symptoms include:

  • depression
  • insomnia
  • anxiety

End stage symptoms

As motor neurone disease progresses to its final phase, persons will probably experience:

  • total body paralysis – being unable to move any parts of the body
  • significant breathing difficulties

CLASSIFICATION

There are different types of MND, each affecting people in different ways.

Amyotrophic lateral sclerosis (ALS):

Amyotrophic lateral sclerosis (ALS) is the most common form of the motor neuron diseases. The disorder is characterized by rapidly progressive weakness, muscle atrophy and fasciculations, muscle spasticity, difficulty speaking (dysarthria), difficulty swallowing (dysphagia), and decline in breathing ability. The disorder causes muscle weakness and atrophy throughout the body caused by degeneration of the upper and lower motor neurons. Unable to function, the muscles weaken and atrophy.

Affected individuals may ultimately lose the ability to initiate and control all voluntary movement, although bladder and bowel sphincters and the muscles responsible for eye movement are usually, but not always, spared. Sensory nerves and the autonomic nervous system are generally unaffected meaning the majority of people with ALS will maintain sight, hearing, touch, smell, and taste. Bladder and bowel functions are also rarely affected by ALS.

The earliest symptoms of ALS are typically obvious weakness and/or muscle atrophy. Other presenting symptoms include muscle fasciculation (twitching), cramping, or stiffness of affected muscles; muscle weakness affecting an arm or a leg; and/or slurred and nasal speech. The parts of the body affected by early symptoms of ALS depend on which motor neurons in the body are damaged first.

About 75% of people contracting the disease experience "limb onset" ALS, i.e., first symptoms in the arms or legs. Patients with the leg onset form may experience awkwardness when walking or running or notice that they are tripping or stumbling, often with a "dropped foot" which drags gently along the ground. Arm-onset patients may experience difficulty with tasks requiring manual dexterity such as buttoning a shirt, writing, or turning a key in a lock.

Occasionally, the symptoms remain confined to one limb for a long period of time or for the whole length of the illness; this is known as monomelic amyotrophy.

About 25% of cases are "bulbar onset" ALS. These patients first notice difficulty speaking clearly or swallowing. Speech may become slurred, nasal in character, or quieter. Other symptoms include difficulty swallowing and loss of tongue mobility.

A smaller proportion of patients experience "respiratory onset" ALS, where the intercostal muscles that support breathing are affected first. A small proportion of patients may also present with what appears to be frontotemporal dementia, but later progresses to include more typical ALS symptoms.

Over time, patients experience increasing difficulty moving, swallowing (dysphagia), and speaking or forming words (dysarthria). Symptoms of upper motor neuron involvement include tight and stiff muscles (spasticity) and exaggerated reflexes (hyperreflexia) including an overactive gag reflex. An abnormal reflex commonly called Babinski's sign also indicates upper motor neuron damage. Symptoms of lower motor neuron degeneration include muscle weakness and atrophy, muscle cramps, and fleeting twitches of muscles that can be seen under the skin (fasciculations). Around 15–45% of patients experience pseudobulbar affect, also known as "emotional lability", which consists of uncontrollable laughter, crying or smiling, attributable to degeneration of bulbar upper motor neurons resulting in exaggeration of motor expressions of emotion. To be diagnosed with ALS, patients must have signs and symptoms of both upper and lower motor neuron damage that cannot be attributed to other causes.

Although the order and rate of symptoms varies from person to person, eventually most patients are not able to walk, get out of bed on their own, or use their hands and arms. Regardless of the part of the body first affected by the disease, muscle weakness and atrophy spread to other parts of the body as the disease progresses. In limb-onset ALS, symptoms usually spread from the affected limb to the opposite limb before affecting a new body region, whereas in bulbar-onset ALS symptoms typically spread to the arms before the legs.

Disease progression tends to be slower in patients who are younger than 40 at onset, have disease restricted primarily to one limb, and those with primarily upper motor neuron symptoms. Conversely, progression is faster and prognosis poorer in patients with bulbar-onset disease, respiratory-onset disease, and frontotemporal dementia.

Difficulty swallowing and chewing making eating normally very difficult and increase the risk of choking or aspirating food into the lungs. In later stages of the disease, aspiration pneumonia and maintaining a healthy weight can become a significant problem and may require insertion of a feeding tube. As the diaphragm and intercostal muscles (rib cage) that support breathing weaken, measures of lung function such as forced vital capacity and inspiratory pressure diminish. In respiratory onset ALS, this may occur before significant limb weakness is apparent. External machines such as bilevel positive pressure ventilation (BiPAP) are frequently used to support breathing, first at night, and later during the daytime as well. BiPAP is only a temporary remedy, however, and it is recommended that long before BiPAP stops being effective, patients should decide whether to have a tracheotomy and long term mechanical ventilation. Most people with ALS die of respiratory failure or pneumonia.

Although respiratory support can ease problems with breathing and prolong survival, it does not affect the progression of ALS. Most people with ALS die from respiratory failure, usually within three to five years from the onset of symptoms. The median survival time from onset to death is around 39 months, and only 4% survive longer than 10 years.

Progressive bulbar palsy (PBP):

PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).

Prognosis for PBP patients is poor. Progressive bulbar palsy symptoms can include progressive difficulty with chewing, talking, and swallowing. Patients can also exhibit reduced gag reflexes, weak palatal movements, fasciculations, and weak movement of the facial muscles and tongue. In advanced cases of PBP, the patient may be unable to protrude their tongue or manipulate food in their mouth.

Patients with early cases of PBP have difficulty with pronunciations, particularly lateral consonants (linguals) and velars, and may show problems with drooling saliva. If the corticobulbar tract is affected a pseudobulbar affect with emotional changes may occur.

Because PBP patients have such difficulty swallowing, food and saliva can be inhaled into the lungs. This can cause gagging and choking, and it increases the risk of pneumonia. Death, which is often from pneumonia, usually occurs 1 to 3 years after the start of the disorder.

Progressive muscular atrophy (PMA):

is a rare subtype of motor neuron disease (MND) which affects only the lower motor neurones. PMA is thought to account for around 4% of all MND cases. This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurones, or primary lateral sclerosis, another rare MND variant, which affects only the upper motor neurons. The distinction is important because PMA is associated with a better prognosis than other forms of MND.

As a result of lower motor neurone degeneration, the symptoms of PMA include:

  • atrophy
  • fasciculations
  • muscle weakness

Some patients have symptoms restricted only to the arms or legs (or in some cases just one of either). These cases are referred to as "Flail Arm" (FA) or "Flail Leg" (FL) and are associated with a better prognosis.

Primary lateral sclerosis (PLS):

is a rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.

PLS only affects upper motor neurons. There is no evidence of the degeneration of spinal motor neurons or muscle wasting (amyotrophy) that occurs in amyotrophic lateral sclerosis (ALS).

Onset of PLS usually occurs spontaneously after age 50 and progresses gradually over a number of years, or even decades. The disorder usually begins in the legs, but it may start in the tongue or the hands. Symptoms may include difficulty with balance, weakness and stiffness in the legs, and clumsiness.

Other common symptoms are spasticity (involuntary muscle contraction due to the stretching of muscle. Muscle contraction is dependent on the velocity of the stretch) in the hands, feet, or legs, foot dragging, and speech and swallowing problems due to involvement of the facial muscles. Breathing may also become compromised in the later stages of the disease, causing those patients who develop ventilatory failure to require noninvasive ventilatory support.

Hyperreflexia is another key feature of PLS as seen in patients presenting with the Babinski's sign. Some people present with emotional lability and bladder urgency, and occasionally people with PLS experience mild cognitive changes detectable on neuropsychological testing, particularly on measures of executive function.

Pseudobulbar palsy

Pseudobulbar palsy results from an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing (Dysphagia) and demonstrate slurred speech (Dysarthria) (often initial presentation). Individuals with pseudobulbar palsy also demonstrate inappropriate emotional outbursts.

DIAGNOSTIC CRITERIA

This is of course a diagnosis which needs a great deal of careful consideration given the poor prognosis. Nevertheless, it is equally important to ensure that the diagnosis is not unduly delayed. One study found that the average time from suspected diagnosis to confirmation was one year.

Diagnosis should be made after consideration of the clinical signs and symptoms together with investigations to exclude other causes.

Because of the very variable clinical presentation, the diagnostic criteria below have been devised, taking into account investigations to confirm the diagnosis and refute other possible causes (revised El Escorial Criteria):

Presence of:

  • Evidence of LMN degeneration by clinical, electrophysiological or neuropathological examination.
  • Evidence of UMN degeneration by clinical examination.
  • Progressive spread of symptoms or signs within a region or to other regions, as determined by history or examination.

Together with the absence of:

  • Electrophysiological and pathological evidence of other disease processes that might explain the signs of LMN and/or UMN degeneration.
  • Neuroimaging evidence of other disease processes that might explain the observed clinical and electrophysiological signs.

INVESTIGATIONS

There are no specific investigations that will confirm a diagnosis of motor neurone disease (MND). A range of investigations are carried out to confirm consistent features and exclude other possible pathologies, usually under the direction of a neurologist. It may take several months to decide that the clinical presentation, progression and investigation findings are consistent with the diagnosis. This cautious approach is understandable, given the prognosis of the illness and the devastation that being given the diagnosis may cause to a person's life. The investigations below may be conducted during the course of making the diagnosis:

  • Electrophysiological studies such as Electromyography (EMG) and nerve-conduction studies (NCS) will show a characteristic pattern but require careful interpretation, along with a consideration of the clinical features. In MND, EMG shows fibrillation and fasciculations. The motor units are polyphasic and have high amplitude and long duration. NCS should show normal motor and sensory conduction in MND. EMG is important in establishing the presence of widespread anterior horn cell damage that is unexplained by a single nerve, root or plexus lesion. This involves demonstrating evidence of acute denervation and reinnervation by examining at least two muscles in an affected limb, at least one muscle in a clinically unaffected limb and at least one muscle innervated by a cranial nerve, e.g. sternocleidomastoid or tongue. The assessment of thoracic paraspinal muscles by electromyography provides a useful strategy for differentiating MND from spondylosis because the thoracic paraspinal muscles are frequently affected in MND and spared in spondylotic amyotrophy. Electrophysiological findings should be given equal weight to the clinical findings in the diagnosis of the condition.
  • CT and/or MRI scanning of the brain and spinal cord are useful in excluding other pathologies with similar presentations. Neuro-imaging is not yet considered to be sufficiently sensitive to assess responses to treatment but the European Federation of Neurological Societies recommends that it should be incorporated into the evaluation of research trials.
  • Blood tests to exclude other conditions, such as vitamin B12 and folate levels, HIV serology, Lyme disease serology, creatine kinase assay, serum protein electrophoresis, anti-GM1 antibodies (multifocal motor neuropathy with conduction block), urinary hexosaminidase-A assay (Tay-Sachs) and a host of other more specialized tests for rare conditions.
  • Muscle biopsy may be considered to exclude or to diagnose myopathic conditions.

MANAGEMENT

Riluzole (a neuroprotective glutamate-release inhibitor) is the only drug of proven disease-modifying efficacy but its effects are modest, probably only prolonging lifespan by between 2 and 4 months. It may have a more significant effect on prolonging tracheostomy-free survival. It appears to be well-tolerated and of greater benefit the earlier it is started in the course of the disease. It has been shown to act by blocking muscle acetylcholine receptors.

Riluzole does not reverse the damage already done to motor neurons, and people taking it must be monitored for liver damage

Other medications may be used to treat symptoms of the disease; for example:

  • Drooling may be reduced by the use of anticholinergics such as hyoscine.
  • Muscle cramps and spasticity can be treated with agents such as diazepam, baclofen, tizanidine, phenytoin and quinine.
  • Respiratory distress and the sensation of choking may respond to opioid medications but this must be balanced against their tendency to cause respiratory suppression; they are very useful to treat this symptom in the palliative phase.
  • Depression associated with MND may respond to the use of antidepressant medications.
  • Pain often goes under-recognised and undertreated. Mild to moderate pain can often be controlled using non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen. More severe pain can be treated using an opiate-based painkiller, such as morphine.

As motor neurone disease progresses, swallowing problems (dysphagia) will become so severe that you won't be able to eat and drink normally. One widely used treatment for dysphagia is a feeding tube known as a percutaneous endoscopic gastrostomy (PEG) tube. A PEG tube is surgically implanted into your stomach through a small incision on the surface of the stomach. PEG tubes are designed for long-term use and last for up to six months before they need replacing.


Ayurveda Management

In Ayurveda, health is defined as the state where physical body, senses, and psyche are in original or natural state with respect to body and function.

Although there is no precise equivalent for MND in Ayurveda, MND can be considered as ‘VATA’ predominant disease. Vata is considered as a chief factor for the physiological maintenance of the body. Vata biofactor is responsible for functions of the central, autonomic, and peripheral nervous systems. Vata controls the respiratory, blood, lymphatic, excretory, and reproductive systems, as well as all types of movements. It is also responsible for the cognitive and neocognitive function of the brain and secretion of various chemical neurotransmitters and hormones. This description of Vata resembles the functions of central, peripheral, and autonomic nervous systems.

The Vata diseases as described in Ayurvedic classics include a wide range of neurological morbidities, including inflammatory, degenerative, obstructive, and functional. Factors provoking Vata result in the instantaneous manifestation of diseases, which can even prove to be fatal.

Most of the signs & symptoms of MND like fasciculations, cramps, wasting, weakness, spasticity, bulbar symptom etc. match that of the classical signs & symptoms of Vata derangement described in Ayurveda. So the line of treatment in Ayurveda mainly focuses on the pacification Vata and bringing back the equilibrium between all the three Doshas (Vata, Pitta & Kapha).

 
‘CHARAKA-THE SPECIALITY AYURVEDA' Institute of Panchakarma & Research, a traditional health care center, started treating MND cases since the year 2003. Our knowledge of MND has evolved over the last few years. We have been continuously working on this disease and are committed the better success in treating MND patients.

CHARAKA Ayurveda facility offers a very effective treatment methodology for MND, based on the classical texts of Ayurveda.

At CHARAKA, management of MND is usually aggressive and primarily consists of four procedures:

(1) samsodhan (cleansing through Panchakarma therapy)
(2) samsaman (palliative care through researched internal medicines)
(3) kaya kalp (rejuvenation)
(4) sattvavajaya (counseling/psychotherapy).

Along with these, strict diet & life style modification will be advocated.

Ayurveda therapy can be comfortably combined with Riluzole therapy as there is no interaction between Ayurveda medicines & Riluzole.

Today, CHARAKA stands to be the most experience Ayurveda facility in India for treating MND cases. Apart from treating, we are also educating and creating awareness among the MND patients and their relatives.

Inspite of the best possible treatment efforts, currently complete cure of MND in most of the cases, is not possible as this disease as per Ayurveda comes under the criteria of ‘Kashta saadhya roga’ (difficult to cure).
 
***IMPORTANT ISSUE TO BE NOTED AND UNDERSTOOD BY ALL MND PATIENTS AND THEIR ATTENDENTS*** 
 

EARLY DIAGNOSED & TREATED CASES RESPOND TO THE MAXIMUM AND RATE OF SUCCESS WILL DECREASE WITH CHRONICITY OF THE DISEASE.



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