Equipping People To Make Sense Of What They Are Told
Amytrophic Lateral Sclerosis - a neurological disorder characterised by progressive
degeneration of motor neuron cells in the spinal cord and brain, which ultimately
results in paralysis and death. The disease takes its less-scientific name from Lou
Gehrig, a baseball player with the New York Yankees in the late 1920s and 1930s,
who was forced to retire in 1939 as a result of the loss of motor control caused
by the disease.
Incident
One or two out of 100,000 develop ALS each year. ALS most commonly strikes those
between 40 and 60 years of age, but younger and older can also develop the disease.
Men are affected slightly more often than women.
Symptoms
Breathlessness when laying flat occur.
Dementia may occur in a small proportion of cases.
Facial Weakness.
Involuntary twitching of the face and tongue (fasciculation) occur.
Jaw Weakness.
Over time wasting of the muscles becomes profound and the hands become flexed.
Respiratory muscles are affected, early involvement of one of the brain centres responsible
for respiration (medulla oblongata) worsens the prognosis.
In 1991, a team of researchers linked familial ALS to chromosome 21. Two years later,
the SOD1 gene was identified as being associated with many cases of familial ALS.
The enzyme coded for by SOD1 carries out a very important function in cells: it removes
dangerous superoxide radicals by converting them into non-harmful substances.
Defects in the action of this enzyme mean that the superoxide radicals attack cells
from the inside, causing their death. Several different mutations in this enzyme
all result in ALS, making the exact molecular cause of the disease difficult to ascertain.
From the first symptoms the average life expectancy for an ALS person is 3 to 5 years,
while a small proportion may survive for 10 years.
Diagnosing motor neurone disease is very difficult.
It is a comparatively ‘rare’ disease.
The early symptoms can be quite slight.
The disease affects each individual in a different way.
There is no test available to diagnose MND; it is a case of eliminating other potential
conditions. See Diagnostic Process
MND does not usually affect the senses or the bladder and bowel and it is not contagious.
The effects of MND can vary enormously from person to person, from the presenting
symptoms, the rate and pattern of the disease progression to the length of survival
time after diagnosis.
The Diagnostic Process
Blood samples may be taken to conduct a blood count and ESR to exclude the possibility
of an underlying malignancy. (A blood test will be looking to see if there is any
rise in a creatinine kinase. This is produced when muscle breaks down and may be
found in the blood of those with MND. It is not specific for MND and may also indicate
other medical conditions.)
Blood glucose levels may be tested to exclude the possibility of loss of muscle bulk
caused by diabetic amyotrophy.
CT and MRI scanning may be used to exclude the possibility of a brain tumour.
MR imaging or a myelogram may be taken of the cervical and thoracic spine to exclude
the possibility of cervical spondylosis.
A biopsy of muscle tissue may occur to exclude polymyositis
Motor neuropathy may be excluded by nerve conduction study. (This test may be carried
out at the same time as the EMG. An electrical impulse is applied through a small
pad on the skin which measures the speed at which your nerves carry electrical signals.)
Transcranial magnetic stimulation (TMS) - A noninvasive method to excite neurons
in the brain. (designed to measure the activity of the upper motor neurones; its
findings may help in the diagnostic process.)
An electromyogram (EMG) will show widespread denervation. (The EMG test, sometimes
called the needle test. Fine needles are used to record the naturally-occurring nerve
impulses within certain muscles, recordings are usually taken from each limb and
the bulbar (throat) muscles. Muscles, which have lost their nerve supply, can be
detected because their electrical activity is different from normal healthy muscles.
The EMG can be shown as abnormal even if that particular muscle is as yet unaffected.
It is a very important diagnostic test.
Aimspro - Has been designated ‘Orphan Status’ for the Treatment of Amyotrophic Lateral
Sclerosis (ALS) by the TGA and the FDA. Review Paper -Internet Page
Minocycline hydrochloride - also known as minocycline - a member of the broad spectrum
tetracycline antibiotics, and has a broader spectrum than the other members. It is
a bacteriostatic antibiotic.
Riluzole - Rilutek - delays the onset of ventilator-dependence or tracheostomy in
selected people and may increase survival by approximately two months.
Valproic acid (VPA) - a chemical compound that has found clinical use as an anticonvulsant
and mood-stabilizing drug.
Recent research has suggested that treatment with drugs called antioxidants may benefit
ALS people. However, since the molecular genetics of the disease are still unclear,
a significant amount of research is still required to design other promising treatments
for ALS. ALS is unusual in those under the age of 50 years, the incidence rate rises
with age peaking between 60 and 70 years of age.
A multi disciplinary team effort is required to meet the physical and psycho-social
needs. This should be discussed with your health professional and case worker.
Excessive salivation may be managed using portable suction equipment and anticholinergic
drugs.
Muscle cramps may require drugs which act as a relaxant.
Speech disorder may require speech therapy and, in some cases communication aids.
Respiratory problems may be helped by physiotherapy.
Spasticity may be treated with drugs to relieve rigidity and muscle spasms.
Some may experience depression which may be countered by drug and counselling.
Erythrocyte sedimentation rate (ESR) - an easy, inexpensive, nonspecific test that
has been used for many years to help diagnose conditions associated with acute and
chronic inflammation, including infections, cancers, and autoimmune diseases. ESR
is typically used in conjunction with other tests.
Diabetic amyotrophy - a type of nerve damage that is distinct from other types of
diabetic neuropathy. It is characterised by the wasting of the muscles in the pelvis
and thigh.
CT and MRI - Cat scans are a specialized type of x-ray. The patient lies down on
a couch which slides into a large circular opening. The x-ray tube rotates around
the patient and a computer collects the results. These results are translated into
images that look like a "slice" of the person. CT is very good for imaging bone structures.
MRI is completely different. Unlike CT it uses magnets and radio waves to create
the images. No x-rays are used in an MRI scanner.The patient lies on a couch that
looks very similar the ones used for CT. They are then placed in a very long cylinder
where they have to remain perfectly still. The machine will produce a lot of noise
an examination typically runs about 30 minutes.The cylinder that you are lying in
is actually a very large magnet. The computer will send radio waves through your
body and collect the signal that is emitted from the hydrogen atoms in your cells.
This information is collected by an antenna and fed into a sophisticated computer
that produces the images. These images look similar to a CAT scan but they have much
higher detail in the soft tissues. Unfortunately, MRI does not do a very good job
with bones. Most MRI machines can produce images in any plane. CT does not do this.
Cervical Spondylosis - a degenerative process in the spine in the neck. A combination
of disc deterioration and Osteoarthritis is the cause.
Polymyositis - an inflammatory disease of skeletal muscle of unknown etiology, characterised
by symmetric weakness of the limb girdles, neck, and pharynx.
Multifocal motor neuropathy - a progressive muscle disorder characterised by muscle
weakness in the hands. Symptoms also include muscle wasting, cramping, and involuntary
contractions or twitching of the leg muscles. The disorder is sometimes mistaken
for amyotrophic lateral sclerosis (ALS)
An electromyogram (EMG) - measures the electrical activity of muscles at rest and
during contraction. Nerve conduction studies measure how well and how fast the nerves
can send electrical signals.
Creatine Kinase - (a type of blood test) checks for raised blood levels of certain
brain and muscle enzyme proteins. Raised levels may indicate several things including
stroke, heart attack, brain tumors, hypothyroidism, muscular dystrophy, and many
other things. It depends on which enzyme is elevated as to what it may be indicating.
