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Other organs keep you alive – but the brain is what makes you human, and muscles turn thought into action.

Disorders

Other organs keep you alive – but the brain is what makes you human, and muscles turn thought into action. Between them, brain nerve and muscle govern mobility, ability, activity, creativity, thinking, talking, sensing – in other words: being you. It is not surprising that something as complex as this can go wrong, that it does so frequently, and that when it does it is devastating.The list of disorders of brain, nerve and muscle is vast, and includes some of the most serious and incurable in the western world: We are rigorously researching and treating these disorders.

Types of Disorder

STROKE

A stroke is the sudden loss of brain function consequent on the death of brain cells caused by a lack of supply of oxygen and nutrients to critical parts of the brain.
A stroke is the sudden loss of brain function consequent on the death of brain cells caused by a lack of supply of oxygen and nutrients to critical parts of the brain.

A stroke, sometimes referred to as a cerebrovascular accident (CVA), is the sudden loss of brain function consequent on the death of brain cells caused by a lack of supply of oxygen and nutrients to critical parts of the brain. There are two main types of stroke, ischaemic stroke and haemorrhagic stroke.

Whatever the cause – ischaemic or haemorrhagic – the affected area of the brain can no longer function resulting in an inability to move one or more limbs on one side of the body, an inability to understand or formulate speech, or to see one side of the visual field.

It is important that stroke victims receive hospital treatment as soon as possible after the onset of symptoms as early intervention is critical in determining clinical outcome. An ischemic stroke is sometimes treated by thrombolysis using recombinant tissue plasminogen activator (rtPA), which breaks down the blood thrombus. In acute ischaemic stroke, there is evidence that rtPA if given three hours after symptom onset increases the risk of death in the short term but in the longer term has a beneficial effect. Use of rtPA is recommended by some medical authorities (e.g. American Heart Association) if given within three hours of onset of symptoms but others caution that there is insufficient data to support its use as a standard mode of therapy. Some haemorrhagic stroke patients benefit from neurosurgery.

A stroke constitutes a medical emergency and can lead to permanent neurological damage and death. Risk factors for stroke include age, high blood pressure, a history of previous strokes or transient ischaemic attacks, obesity, diabetes, high blood cholesterol and tobacco smoking. Tobacco smoking is the most important modifiable risk factor for stroke, although body weight and cardiovascular fitness are important factors.

The treatment of stroke survivors designed to recover lost function is termed stroke rehabilitation and involves a range of health professionals, including speech pathologists, physiotherapists and occupational therapists.

Prevention of reoccurrence may involve the use of antiplatelet drugs such as aspirin, control of blood pressure, and the use of statins.

Stroke is Australia’s second biggest killer after coronary heart disease and a leading cause of disability. 1 in 6 people will suffer a stroke in their lifetime.

In 2012, about 50,000 Australians suffered new or recurrent strokes – that is 1000 strokes every week or one stroke every 10 minutes – and over 420,000 people were living with the aftereffects of stroke, 30% of these below retirement age.

The prevalence of stroke in Australia is forecast to increase. It is predicted that over 700,000 Australia will be living with the effects of a stroke by 2032, two-thirds of who will suffer a permanent disability that impedes their ability to carry out activities of daily living.

PARKINSON’S

Parkinson’s is a progressively degenerative neurological disorder which affects the control of body movements.
Parkinson’s – named after the English doctor, James Parkinson who first reported the disease in 1817 – is a degenerative disorder of the central nervous system that occurs when a specific type of nerve cell in a part of the midbrain called the substantia nigra dies or becomes impaired. These cells produce the chemical dopamine, a neurotransmitter (messenger) that is released by neurons to send signals to other neurons.

Dopamine plays a particularly critical role in motor control.

The symptoms of Parkinson’s appear when about 70% of dopamine-producing cells cease to function normally. Unless treated, symptoms develop slowly and gradually progress over years. Early in the course of the disease, the most striking symptoms are motor-related, including shaking, rigidity, slowness of movement and difficulty with walking and gait. Later, thinking and behavioral problems may arise with dementia occurring in the advanced stages of the disease. Depression is the most striking psychiatric problem. Other symptoms include sensory, sleep and emotional problems.

Parkinson’s is more common in older people, with most cases occurring after the age of 50. It is estimated that approximately four people per 1,000 in Australia have Parkinson’s, with the incidence increasing to one in 100 over the age of 60. In Australia, there are approximately 80,000 people living with Parkinson’s, with one in five people being diagnosed before the age of 50.

The main motor symptoms are collectively referred to as parkinsonism. Parkinson’s is an idiopathic disorder (having no known cause), although there are reported links with exposure to certain types of pesticide and tobacco smoking.

The pathology of the disease is characterised by the accumulation of the protein alpha-synuclein in inclusions called Lewy bodies and by insufficient formation and activity of dopamine. Diagnosis is commonly based on symptoms with tests such as neuroimaging being used for confirmation.

Modern treatments are effective at managing the early motor symptoms of the disease and involve the use of the drug levodopa as well as dopamine agonists. As the disease progresses and dopaminergic neurons continue to be lost, however, these drugs eventually become ineffective at treating the symptoms and at the same time produce a complication called dyskinesia marked by involuntary writhing movements. Diet and some forms of rehabilitation have shown some effectiveness at alleviating symptoms. Surgery and deep brain stimulation are used to reduce motor symptoms as a last resort in severe cases where drugs are ineffective. New research directions include the potential use of gene therapy, stem cell transplants and neuroprotective agents.

Public awareness of Parkinson’s has been heightened in recent years by the impact of the disease on high-profile personalities, including the actor Michael J. Fox, the boxer, Mohammed Ali and, most recently, the comedian, Billy Connolly.

SPINAL CORD INJURY

A spinal cord injury (SCI) refers to any injury to the spinal cord that is caused by trauma instead of disease.
A spinal cord injury (SCI) refers to any injury to the spinal cord that is caused by trauma instead of disease.

The damage in SCI to the spinal cord may be complete or incomplete, depending on the site and degree of injury to the nerve fibres. Incomplete injury can result in movement and sensation abnormalities and a complete injury usually means total loss of movement and sensation – permanent paralysis.

SCI is a permanent and irreversible injury where prevention is the only cure.

More than 10,000 people in Australia have a spinal cord injury, many resulting in quadriplegia or paraplegia. The most common causes of SCI are accidents involving motor vehicle occupants and unprotected road users (including cyclists and pedestrians), as falls, sports injuries and violence. Men in particular are at risk accounting for over 80% of cases.

SCI is typically a young person’s disorder with people aged 15 to 24 being at the greatest risk.

Treatment of spinal cord injuries starts with restraining the spine and controlling inflammation to prevent further damage. The actual treatment can vary widely depending on the location and extent of the injury. In many cases, spinal cord injuries require substantial physical therapy and rehabilitation, especially if the patient’s injury interferes with activities of daily life.

Some studies indicate that as many as one in four spinal cord injured persons deteriorate between the time of their injury and their final arrival in hospital. While some of this deterioration is due to the nature of the injury itself, particularly in the case of multiple or massive trauma, some of it reflects a failure to suspect that a spinal injury has occurred in the first place and to treat the injured person appropriately. If a suspected spinal cord injury is inappropriately or incompletely immobilised, handled, packaged or transported, further damage may well occur. Because of this, paramedics are increasingly trained in identifying spinal cord injury in a range of circumstances and taking action accordingly.

The first stage in the management of a suspected spinal cord injury follows the basic life support principles of resuscitation.

Research into new treatments for spinal cord injuries includes use of stem cells transplants, but this research, though encouraging, is still at an early stage.

SPINAL MUSCULAR ATROPHY

Spinal Muscular Atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem.
Spinal Muscular Atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem.

Spinal Muscular Atrophy (SMA) is a rare autosomal recessive disease caused by a genetic defect in a gene – the Survival Motor Neuron 1 gene (SMN1) – which encodes a protein widely expressed in cells but which is of crucial importance for survival of motor neurons. Reduced levels of the protein result in death of neuronal cells in the anterior horn of the spinal column, resulting in systematic muscle wasting (atrophy).

SMA is the most common genetic cause of infant death. SMA, which affects one in every 6,000 to 20,000 births, is a complex disease with no known cure.

In SMA, the nerve cells of the spinal cord do not have the genetic programming that enables them to send messages effectively or efficiently to the muscles surrounding the spinal cord. Because the muscles are not stimulated, they become weak and the muscle cells atrophy. Muscle weakness becomes worse over time until the muscles no longer respond. Muscles closest to the trunk (shoulders, hips and back) are often the most severely affected, with leg weakness usually more pronounced than in the arms.

Key life functions such as swallowing and feeding can be affected. Because of the involvement of respiratory muscles used for breathing and coughing, SMA sufferers are at significant risk of contracting pneumonia or experiencing other lung problems. Neck, head and facial muscles can also be affected. With poor head control, there is a risk that difficulties in lifting the head can result in airway occlusion. 
Some children eventually lose the ability to suck, chew, drink, spit or smile.

There are multiple forms of SMA, each child and each set of parents facing their own unique decisions. Four types of SMA are recognised, referred to as Type 1 (Infantile SMA or Werdnig-Hoffman disease), Type 2 (Intermediate SMA or chronic childhood SMA), Type 3 (Juvenile SMA or Kugelberg-Welander disease) and Type 4 (Adult onset SMA) although there are also rare variants.

These types display varying degrees of severity, although all are associated with general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms.

Children with Infantile SMA are diagnosed usually before 6 months of age, more often before 3 months of age. Symptoms may even start in the womb. Many mothers later recall the baby not moving as much in the last month or so of pregnancy. Once born, children are not able to hold up their heads, roll over, crawl, sit up without support, or walk. All of their muscles are extremely weak, with the weakest muscles being in the legs, upper arms, and neck. The child’s chest may appear concave, or very skinny at the top, with a big belly, almost bell-shaped. SMA affects all muscle systems as well including the processes of sucking, swallowing, digesting food, and excretion.

Other types of SMA only become apparent at 6-18 months (Type 2), after 18 months (Type 3) or in adulthood, and patients commonly survive into adulthood.

Currently, there is no cure for SMA.

INFLAMMATORY MYOPATHIES

Myopathy is a term used to describe any form of muscle disease. The inflammatory myopathies are a group of diseases that involve chronic muscle inflammation (myositis), accompanied by muscle weakness.

There are three main types of chronic or persistent inflammatory myopathy; polymyositis, dermatomyositis, and inclusion body myositis.

Muscle inflammation may be caused by an allergic reaction, exposure to a toxic substance, another disease such as cancer or rheumatic conditions, or a virus or other infectious agent. The chronic inflammatory myopathies are idiopathic, meaning they have no known cause. They are thought to be autoimmune disorders, in which the body’s own white blood cells (that normally fight disease) attack blood vessels, normal muscle fibres, and connective tissue in organs, bones, and joints.

The inflammatory myopathies are a group of rare disorders that affect both adults and children, although dermatomyositis is the most common chronic form in children. Polymyositis and dermatomyositis are more common in women than in men. A rare childhood onset form of polymyositis and dermatomyositis can occur in children between the ages of 2 and 15 years. Inclusion body myositis usually affects individuals over age 50.

General symptoms of chronic inflammatory myopathy include slow but progressive muscle weakness that starts in the proximal muscles—those muscles closest to the trunk of the body. Inflammation damages the muscle fibres, causing weakness, and may affect the arteries and blood vessels that run through the muscle. Other symptoms include fatigue after walking or standing, tripping or falling, and difficulties in swallowing or breathing. Some individuals may have slight muscle pain or muscles that are tender to touch.

Polymyositis affects skeletal muscles on both sides of the body. It is rarely seen in persons under age 18 and is most common the ages of 31 and 60. People with polymyositis may also experience arthritis, shortness of breath, and heart arrhythmias.

Dermatomyositis is characterised by a skin rash that precedes or accompanies progressive muscle weakness. The rash is patchy, with purple or red discolorations, and characteristically develops on the eyelids and on muscles used to extend or straighten joints, including knuckles, elbows, knees, and toes. Red rashes may also occur on the face, neck, shoulders, upper chest, back, and other locations, and there may be swelling in the affected areas. The rash sometimes occurs without obvious muscle involvement. Adults with dermatomyositis may experience weight loss or a low-grade fever, have inflamed lungs, and be sensitive to light. Adult dermatomyositis, unlike polymyositis, may accompany tumors of the breast, lung, female genitalia, or bowel.

Inclusion body myositis (IBM) is characterized by progressive muscle weakness and wasting. The onset of muscle weakness is generally gradual – over months or years – and affects both proximal and distal muscles, often only one side of the body. Small holes called vacuoles are sometimes seen in the cells of affected muscle fibers. Falling and tripping are usually the first noticeable symptoms of IBM. Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. Unlike polymyositis and dermatomyositis, IBM occurs more frequently in men than in women.

Juvenile myositis has some similarities to adult dermatomyositis and polymyositis. It typically affects children ages 2 to 15 years, with symptoms that include proximal muscle weakness and inflammation, edema (an abnormal collection of fluids within body tissues that causes swelling), muscle pain, fatigue, skin rashes, abdominal pain, fever, and contractures (chronic shortening of muscles or tendons around joints, caused by inflammation in the muscle tendons, which prevents the joints from moving freely).

There is no cure for the chronic inflammatory myopathies but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Inflammatory myopathies that are caused by medicines, a virus or other infectious agents, or exposure to a toxic substance usually abate when the harmful substance is removed or the infection is treated. If left untreated, inflammatory myopathy can cause permanent disability.

There is no standard course of treatment for IBM. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs. Some evidence suggests that immunosuppressive medications or intravenous immunoglobulin may have a slight, but short-lasting, beneficial effect in a small number of cases. Physical therapy may be helpful in maintaining mobility. Other therapy is symptomatic and supportive.

HUNTINGTON’S

Huntington’s is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.

The disease – first described in detail by the American physician, George Huntington in 1872 – typically becomes noticeable in mid-adult life.

Huntington’s is the most common genetic cause of abnormal involuntary writhing movements, called chorea – hence the disease’s former name, Huntington’s chorea.

The disease is more common in people of Western European descent compared to those of Asian or African ancestry and affects both men and women. It is caused by an autosomal dominant mutation in either of an individual’s two copies of the gene, Huntingtin, meaning that any child with an affected parent carries a 50% chance of inheriting the disease. The Huntingtin gene encodes the protein, huntingtin, with the abnormal gene in Huntington’s patients producing an aberrant form of the protein that gradually causes damage to cells in the brain.

Physical symptoms of Huntington’s can begin at any age from infancy to old age, but usually begin between 35 and 44 years of age, although 6% of cases show symptoms before the age of 21 years.

There is no cure for Huntington’s, and full-time care is required in the later stages of the disease. Existing pharmaceutical and non-drug treatments can relieve many of its symptoms. Genetic tests are available that can be performed at any stage before onset of symptoms and provide the basis for genetic counseling.

Symptoms of the disease can vary between individuals and even among affected members of the same family, but usually progress predictably. The earliest symptoms are often subtle problems with mood or cognition. A general lack of coordination and an unsteady gait often follows. As the disease advances, uncoordinated, jerky body movements become more apparent, along with a decline in mental abilities and behavioral and psychiatric problems. Physical abilities are gradually impeded until coordinated movement becomes very difficult. Mental abilities generally decline into dementia. Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy to around twenty years after symptoms begin.

MULTIPLE SCLEROSIS

Multiple sclerosis (MS) is a disease that affects the brain and spinal cord, resulting in loss of muscle control, vision, balance, and sensation (such as numbness).

Multiple sclerosis (MS) – also known as disseminated sclerosis or encephalomyelitis disseminata – is an inflammatory disease in which the insulating covers – the myelin – of nerve cells in the brain and spinal cord are damaged. This disrupts the ability of parts of the nervous system to communicate resulting in a range of signs and symptoms, including impaired muscle control, visual disturbances, balance abnormalities, and impaired sensation as well as psychiatric problems. MS is an autoimmune disorder where the body’s own immune system attacks and destroys the myelin sheath covering nerves of the brain and spinal cord, a process termed demyelination.

MS takes several forms, with new symptoms occurring in isolated attacks (relapsing MS) or building up over time (progressive MS). Between attacks, symptoms may go away completely; however, permanent neurological problems often occur, especially as the disease advances.

MS gets its name from the build-up of scar tissue (sclerosis) in the brain and/or spinal cord. This scar tissue or plaques form when the protective and insulating myelin sheath covering nerves is destroyed, a process called demyelination. Without the myelin, electrical signals transmitted throughout the brain and spinal cord are disrupted or halted. The brain then becomes unable to send and to receive messages and it is this breakdown of communication that causes the symptoms of MS.
Although nerves have the capacity to regain myelin, this process is not sufficiently fast to keep pace with rate of demyelination. The types of symptoms, their severity, and the course of the disease varies widely, partly reflecting the location of the scar tissue and the extent of demyelination.

A 2009 survey suggested that there are about 24,000 MS sufferers in Australia, equivalent to 0.1% of the population. Worldwide, there are between 2 and 2.5 million sufferers, including 400,000 in the the United States alone, making MS the second most frequent cause (after trauma) of neurological disability beginning in early to middle adulthood. 

MS is two to three times as common in females as in males and its occurrence is unusual before adolescence.

There is no known cause for MS. MS is up to 10 times more common in individuals who live far from the equator and for MS sufferers, flare-ups occur less frequently in the summer than at the end of winter. This and other evidence suggests a link between MS, latitude and exposure to sunlight via a mechanism that involves vitamin D.

DEMENTIA INCLUDING ALZHEIMER’S

Dementia refers to a group of diseases involving a serious loss of global cognitive ability beyond what might be expected from normal ageing.

It is forecast that approaching 1 million Australians will suffer from dementia by 2050. Alzheimer’s disease (AD), also called senile dementia of the Alzheimer type, primary degenerative dementia of the Alzheimer’s type, or simply Alzheimer’s, is the most common form of dementia.

German psychiatrist and neuropathologist, Alois Alzheimer, first described this incurable, degenerative, and terminal disease in 1906. Most often, the disease is diagnosed in people over 65 years of age, although a less-prevalent early-onset Alzheimer’s can occur. In 2006, there were 26.6 million sufferers worldwide. The risk of Alzheimer’s increases with age and is linked to lifestyle factors, including obesity. As a consequence, it is predicted that Alzheimer’s will to affect 1 in every 85 people globally by 2050.

Although the course of Alzheimer’s is unique for every individual, there are many common symptoms. The earliest observable symptoms are often mistakenly thought to be ‘age-related’ concerns, or manifestations of stress. In the early stages, the most common symptom is inability to acquire new memories, observed as difficulty in recalling recently observed events. When Alzheimer’s is suspected, the diagnosis is usually confirmed using behavioral assessments and cognitive tests, often followed by a brain scan, if available.

As the disease advances, symptoms include confusion, irritability and aggression, mood swings, language breakdown, long-term memory loss, and the general withdrawal of the sufferer as their senses decline. Gradually, bodily functions are lost, ultimately leading to death. Individual prognosis is difficult to assess, as the duration of the disease varies. Alzheimer’s develops for an indeterminate period of time before becoming fully apparent, and it can progress undiagnosed for years. The mean life expectancy following diagnosis is approximately seven years. Fewer than three percent of individuals live more than fourteen years after diagnosis.
The cause and progression of Alzheimer’s disease are not well understood. Research indicates that the disease is associated with plaques and tangles in the brain. Currently used treatments offer a small symptomatic benefit; no treatments to delay or halt the progression of the disease are, as of yet, available. A number of non-invasive, life-style interventions have been suggested to aid in the prevention of Alzheimer’s disease or to delay its progress, but there is a lack of adequate evidence for a definitive link between these interventions and reduced degeneration. Mental stimulation, exercise, a balanced diet and phototherapy are suggested, both as possibly aiding prevention and as a sensible way of managing the disease.

Because Alzheimer’s cannot be cured and is degenerative, careful management of patients is essential. The patient’s spouse or a close relative commonly takes on the role of carer, a role that is known to place an enormous psychological, social, physical, and economic burden on the caregiver’s life. As a consequence, in developed countries, Alzheimer’s is one of the most costly diseases affecting society.

MUSCULAR DYSTROPHY INCLUDING DUCHENNE MUSCULAR DYSTROPHY

The muscular dystrophies are a group of muscle diseases that weaken the musculoskeletal system and lead to impaired locomotion.

The muscular dystrophies are characterised by progressive skeletal muscle weakness cause by defects in muscle proteins and the death of muscle cells.

First described in the 1860s by the French neurologist Guillaume Duchenne, the disease is now recognised as having multiple forms. The major forms are Becker, limb-girdle, congenital, facioscapulaohumeral, myotonic, oculopharyngeal, distal, Emery-Dreifuss and Duchenne, the latter the disorder first identified by Guillaume Duchenne.

Duchenne and Becker muscular dystrophies are caused by defects in the dystrophin gene located on the X chromosome and consequently affect mainly males. Most types of muscular dystrophies are multi-system disorders affecting the heart, gastrointestinal system, nervous system, endocrine glands, eyes and brain as well as skeletal muscle.

Duchenne, the most common childhood form of muscular dystrophy affecting 20,000 children born each year across the world, is a relentlessly progressive and fatal disease. Affected individuals commonly require leg braces by the age of 10 and lose the ability to walk by the age of 12 becoming wheelchair-dependent. Life span is between 15 and 51, although most patients die in the mid 20s to early 30s commonly from respiratory and cardiac complications. Currently, there is no known cure for Duchenne muscular dystrophy. Duchenne is a X-linked genetic disorder.

MOVEMENT DISORDERS

Movement Disorders are neurological disorders in which there is either 1) an excess of movement or 2) a paucity of movement that is not due to weakness or paralysis.
Spinal Muscular Atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and brain stem.

Spinal Muscular Atrophy (SMA) is a rare autosomal recessive disease caused by a genetic defect in a gene – the Survival Motor Neuron 1 gene (SMN1) – which encodes a protein widely expressed in cells but which is of crucial importance for survival of motor neurons. Reduced levels of the protein result in death of neuronal cells in the anterior horn of the spinal column, resulting in systematic muscle wasting (atrophy).

SMA is the most common genetic cause of infant death. SMA, which affects one in every 6,000 to 20,000 births, is a complex disease with no known cure.

In SMA, the nerve cells of the spinal cord do not have the genetic programming that enables them to send messages effectively or efficiently to the muscles surrounding the spinal cord. Because the muscles are not stimulated, they become weak and the muscle cells atrophy. Muscle weakness becomes worse over time until the muscles no longer respond. Muscles closest to the trunk (shoulders, hips and back) are often the most severely affected, with leg weakness usually more pronounced than in the arms.

Key life functions such as swallowing and feeding can be affected. Because of the involvement of respiratory muscles used for breathing and coughing, SMA sufferers are at significant risk of contracting pneumonia or experiencing other lung problems. Neck, head and facial muscles can also be affected. With poor head control, there is a risk that difficulties in lifting the head can result in airway occlusion. 
Some children eventually lose the ability to suck, chew, drink, spit or smile.

There are multiple forms of SMA, each child and each set of parents facing their own unique decisions. Four types of SMA are recognised, referred to as Type 1 (Infantile SMA or Werdnig-Hoffman disease), Type 2 (Intermediate SMA or chronic childhood SMA), Type 3 (Juvenile SMA or Kugelberg-Welander disease) and Type 4 (Adult onset SMA) although there are also rare variants.

These types display varying degrees of severity, although all are associated with general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms.

Children with Infantile SMA are diagnosed usually before 6 months of age, more often before 3 months of age. Symptoms may even start in the womb. Many mothers later recall the baby not moving as much in the last month or so of pregnancy. Once born, children are not able to hold up their heads, roll over, crawl, sit up without support, or walk. All of their muscles are extremely weak, with the weakest muscles being in the legs, upper arms, and neck. The child’s chest may appear concave, or very skinny at the top, with a big belly, almost bell-shaped. SMA affects all muscle systems as well including the processes of sucking, swallowing, digesting food, and excretion.

Other types of SMA only become apparent at 6-18 months (Type 2), after 18 months (Type 3) or in adulthood, and patients commonly survive into adulthood.

Currently, there is no cure for SMA.

EPILEPSY

Epilepsy is a disruption of the normal electrochemical activity of the brain that results in seizures. Under certain circumstances anyone can have a seizure.

Epilepsy (from the Ancient Greek meaning “to seize, possess, or afflict”) is a group of long-term neurological disorders characterised by epileptic seizures. These seizures are episodes that can vary from brief and nearly undetectable to long periods of vigorous shaking. In epilepsy, seizures tend to recur, and have no immediate underlying cause.

In most cases of epilepsy, the cause is unknown, although some people develop epilepsy as the result of brain injury, stroke, brain cancer, and drug and alcohol misuse, among others. Epileptic seizures are the result of excessive and abnormal cortical nerve cell activity in the brain. The diagnosis typically involves ruling out other conditions that might cause similar symptoms as well as figuring out if any immediate causes are present. Epilepsy can often be confirmed with an electroencephalogram.

Epilepsy cannot be cured, but seizures are controllable with medication in about 70% of cases. In those whose seizures do not respond to medication, surgery, neuro-stimulation or dietary changes may be considered. Not all cases of epilepsy are life-long, and a substantial number of people improve to the point that medication is no longer needed.

About 1% of people worldwide have epilepsy, nearly 80% of cases occurring in developing countries. Epilepsy becomes more common as people age. In the developed world, onset of new cases occurs most frequently in infants and the elderly, whereas in the developing world, onset is commonly in older children and young adults, reflecting differences in the frequency of the underlying causes. About 5–10% of all people will have an unprovoked seizure by the age of 80, and the chance of experiencing a second seizure is between 40 and 50%. In many areas of the world, those with epilepsy either have their ability to drive restricted or disallowed, but most are able to return to driving after a period of time without seizures.

Epilepsy is a disorder of brain function that takes the form of recurring convulsive or non-convulsive seizures. Epilepsy is not just one condition; rather it is a diverse family of disorders comprising many seizure types.10% of the population are at risk of experiencing a seizure during their lifetime, while 3-4% will go on to be diagnosed with epilepsy.

Epilepsy is a common condition in our community and can develop at any age, regardless of gender or ethnic group. Epilepsy was once considered a disorder of the young, as it was believed that most people experienced their first seizure before the age of 20. However, the over 55 years age group is now being recognised as being the most vulnerable group. This rapidly growing demographic group is subject to the kinds of cerebrovascular, respiratory and cardiac events that can lead to epileptic seizures.

Current research has identified that in many cases of epilepsy in very young children, genetics play an important role. Whilst genetics can be a factor in developing epilepsy at any age, it appears that certain people are simply more prone to having seizures than others. This is, at times, described as having a ‘low-seizure threshold’. A history of seizures in the family makes it more likely for them to develop epilepsy.

Our every thought, feeling or action is controlled by brain cells that communicate with each other through regular electrical impulses. These impulses travel along the network of nerve cells, called neurons, in the brain and throughout the body via chemical messengers called neurotransmitters. A seizure occurs when the brains nerve cells misfire and generate sudden, uncontrolled burst of electrical activity in the brain. The orderly communication between nerve cells becomes scrambled and our thoughts, feelings or movements become momentarily confused or uncontrolled.

Seizures can be subtle causing momentary lapses of consciousness, or conspicuous causing sudden loss of body control. Seizures are episodic and unpredictable, and may occur as frequently as every day, or just occasionally in a lifetime.

While seizures can be frightening, in most instances they stop without intervention. Once the seizure is over the person gradually regains control and re-orients themselves to their surroundings, generally without any ill effects.

Generally, seizures fall into two categories, partial or focal seizures and primary generalized seizures. Partial or focal seizures start in one part of the brain and affect that part of the body controlled by that part of the brain. This type of seizure can be related to, stroke head injury, tumour, but in most cases the cause is unknown. Primary generalised seizures involve the whole brain and therefore involve the whole body. Hereditary factors are important in many of these seizures.

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