The Story of Buku Harian Nayla and the relation with Ataxia
Buku Harian Nayla (Nayla's Diary) is an
Indonesian Christiany television drama which aired on
RCTI. The scenario was written by
Serena Luna. The story is about a girl who was diagnosed with
Ataxia when she was young. This serial gained a national rating of 30.8% throughout Indonesian viewers
.
Synopsis
Everything seemed to be perfect for Nayla as she was a bright,
diligent, always happy, basketball talented girl. She was also very
devoted to her religion. In school, she was the class leader and meets a
handsome senior (
Senpai).
Despite her good luck and hard work, Nayla was diagnosed with
ataxia,
which would soon paralyze her. She hadn't found out though. Dr Fritz
who examined her asked her to write a diary (actually Dr Fritz wanted
her to do this so he could monitor Nayla's health development).
A couple of days later, Martha saw Dr Fritz in order to find out the
results of Nayla's examination. Martha was surprised to discover the
results, but told Nayla nothing. One day, Nayla met a patient who had
symptoms similar to hers.
Nayla asked her doctor but he refused to tell her because he thought
he didn't have any right to tell her. Nayla's health worsened and Martha
reluctantly told her. This came as something of a relief to Mayla, as
she now knew what was happening to her, and what her prognosis was. Soon
Nayla had to use an electric wheelchair. Nayla's good friends amongst
her classmates were always there for here, but some of her classmates
began to be annoyed at being in the same class with Nayla.
Time went by, Nayla successfully graduated. Her friends started to
think about their future and entering university. Nayla was sad. The
only thing that made her felt better was to write. She kept writing even
though her hands started to be difficult to move. Moses entered medical
school which wasn't his dream at first. He wanted to become doctor so
that he can heal Nayla.
Nayla realized that she hadn't long to live, and that her death would
hurt Moses deeply. Nayla determined to call their relationship off. But
secretly, Moses never took his eyes from Nayla.
Nayla's disease worsened more quickly than Dr Fritz's prediction.
There were times when Nayla almost died because of choking or
difficulties breathing but Nayla always fought her disease and never
forget to pray. Her writings were published in a magazine, and people
who read them was moved by her strong will.
On Christmas Eve, Moses read Nayla's letter. At the same time, Nayla
was struggling with her disease. There were many people who became
stronger in facing their lives because of Nayla's writing. That proved
that even though Nayla's condition was so bad, she could still do help
others, in the way she had always wanted to.
Nayla smiled happily. There was no other thing she wanted to find in this world anymore.
From this , we will look what is Ataxia .
The word "ataxia", comes from the Greek word, " a taxis" meaning
"without order or incoordination".
The word ataxia means without coordination. People with ataxia have
problems with coordination because parts of the nervous system that
control movement and balance are affected. Ataxia may affect the
fingers, hands, arms, legs, body, speech, and eye movements.
The word ataxia is often used to describe a symptom of incoordination
which can be associated with infections, injuries, other diseases, or
degenerative changes in the central nervous system. Ataxia is also used
to denote a group of specific degenerative diseases of the nervous
system called the hereditary and sporadic ataxias which are the National
Ataxia Foundation's primary emphases.
Cerebellar
The term
cerebellar ataxia
is used to indicate ataxia that is due to dysfunction of the
cerebellum. This causes a variety of elementary neurological deficits,
such as antagonist
hypotonia,
asynergy,
dysmetria,
dyschronometria, and
dysdiadochokinesia.
How and where these abnormalities manifest themselves depends on which
cerebellar structures have been damaged, and whether the lesion is
bilateral or unilateral.
- Dysfunction of the vestibulocerebellum impairs the balance and the control of eye movements. This presents itself with postural instability, in which the person tends to separate his/her feet upon standing, in order to gain a wider base and to avoid titubation
(bodily oscillations tending to be forward-backward ones). The
instability is therefore worsened when standing with the feet together,
regardless of whether the eyes are open or closed. This is a negative Romberg's test,
or more accurately, it denotes the individual's inability to carry out
the test, because the individual feels unstable even with open eyes.
- Dysfunction of the spinocerebellum presents itself with a wide-based "drunken sailor" gait (called truncal ataxia),[2] characterised by uncertain starts and stops, lateral deviations, and unequal steps.
- Dysfunction of the cerebrocerebellum presents as disturbances in carrying out voluntary, planned movements by the extremities (called appendicular ataxia).[2] These include:
- intention tremor
(coarse trembling, accentuated over the execution of voluntary
movements, possibly involving the head and eyes as well as the limbs and
torso);
- peculiar writing abnormalities (large, unequal letters, irregular underlining);
- a peculiar pattern of dysarthria (slurred speech, sometimes characterised by explosive variations in voice intensity despite a regular rhythm).
- inability to perform rapidly alternating movements, known as dysdiadochokinesia. This could involve rapidly switching from pronation to supination of the forearm. Movements become more irregular with increases of speed.[3]
- inability to judge distances or ranges of movement. This is known as dysmetria and is often seen as undershooting, hypometria, or overshooting, hypermetria,
the required distance or range to reach a target. This is sometimes
seen when a patient is asked to reach out and touch someone's finger or
touch his or her own nose.[3]
- the rebound phenomenon, also known as the loss of the check reflex
is also sometimes seen in patients with cerebellar ataxia. For example,
when a patient is flexing his or her elbow isometrically against a
resistance. When the resistance is suddenly removed without warning, the
patient's arm may swing up and even strike themselves. With an intact
check reflex, the patient will check and activate the opposing triceps
to slow and stop the movement.[3]
Sensory
The term
sensory ataxia is employed to indicate ataxia due to loss of
proprioception, the loss of sensitivity to the positions of joint and body parts. This is generally caused by dysfunction of the
dorsal columns
of the spinal cord, because they carry proprioceptive information up to
the brain. In some cases, the cause of sensory ataxia may instead be
dysfunction of the various parts of the brain which receive positional
information, including the cerebellum,
thalamus, and
parietal lobes.
Sensory ataxia presents itself with an unsteady "stomping" gait with heavy
heel
strikes, as well as a postural instability that is usually worsened
when the lack of proprioceptive input cannot be compensated for by
visual input, such as in poorly lit environments.
Physicians can find evidence of sensory ataxia during
physical examination by having the patient stand with his/her feet together and
eyes
shut. In affected patients, this will cause the instability to worsen
markedly, producing wide oscillations and possibly a fall. This is
called a positive
Romberg's test.
Worsening of the finger-pointing test with the eyes closed is another
feature of sensory ataxia. Also, when the patient is standing with arms
and hands extended toward the physician, if the eyes are closed, the
patient's finger will tend to "fall down" and then be restored to the
horizontal extended position by sudden muscular contractions (the
"ataxic hand").
Vestibular
The term vestibular ataxia is employed to indicate ataxia due to dysfunction of the
vestibular system, which in acute and unilateral cases is associated with prominent
vertigo,
nausea and
vomiting. In slow-onset, chronic bilateral cases of vestibular dysfunction, these characteristic manifestations may be absent, and
dysequilibrium may be the sole presentation.
Causes
The three types of ataxia have overlapping causes, and therefore can either coexist or occur in isolation.
Focal lesions
Exogenous substances
Exogenous substances that cause ataxia mainly do so because they have
a depressant effect on central nervous system function. The most common
example is
ethanol,
which is capable of causing reversible cerebellar and vestibular
ataxia. Other examples include various prescription drugs (e.g. most
antiepileptic drugs have cerebellar ataxia as a possible
adverse effect), Lithium level over 1.5mEq/L,
cannabis ingestion
[4] and various other recreational drugs (e.g.
ketamine,
PCP or
dextromethorphan, all of which are
NMDA receptor antagonists that produce a dissociative state at high doses). Exposure to high levels of
methylmercury, through consumption of fish with high mercury concentrations, is also a known cause of ataxia and other neurological disorders
[5]
Radiation poisoning
Vitamin B12 deficiency
Vitamin B12 deficiency may cause, among several neurological abnormalities, overlapping cerebellar and sensory ataxia.
Causes of isolated sensory ataxia
Peripheral neuropathies
may cause generalised or localised sensory ataxia (e.g. a limb only)
depending on the extent of the neuropathic involvement. Spinal disorders
of various types may cause sensory ataxia from the lesioned level
below, when they involve the dorsal columns.
Non-hereditary cerebellar degeneration
Hereditary ataxias
Arnold-Chiari malformation
[Wilson's Disease
Wilson's Disease is an
autosomal-
recessive gene disorder whereby an alteration of the ATP7B gene results in an inability to properly excrete copper from the body.
[6] Copper accumulates in the nervous system and liver and can cause ataxia as well as other
neurological and organ impairments.
[7]
Treatment
The treatment of ataxia and its effectiveness depend on the
underlying cause. Treatment may limit or reduce the effects of ataxia,
but it is unlikely to eliminate them entirely. Recovery tends to be
better in individuals with a single focal injury (such as
stroke or a
benign tumour), compared to those who have a neurological degenerative condition.
[8] A review of the management of degenerative ataxia was published in 2009.
[9]
The movement disorders associated with ataxia can be managed by pharmacological treatments and through
physical therapy and
occupational therapy to reduce
disability.
[10] Some drug treatments that have been used to control ataxia include: 5-hydroxytryptophan (5-HTP), idebenone,
amantadine, physostigmine, L-carnitine or derivatives, trimethoprim–sulfamethoxazole, vigabatrin, phosphatidylcholine,
acetazolamide, 4-aminopyridine, buspirone, and a combination of
coenzyme Q10 and
vitamin E.
[9] Physical therapy requires a focus on adapting activity and facilitating
motor learning for retraining specific functional motor patterns.
[11]
Gait, coordination, and balance training are large components of
therapy. Training will likely need to be intense and focused—as
indicated by one study performed with stroke patients experiencing limb
ataxia who underwent intensive upper limb retraining.
[12] Their therapy consisted of
constraint-induced movement therapy which resulted in improvements of their arm function.
[12]
Treatment will likely include strategies to manage difficulties with
everyday activities such as walking. Gait aids (such as a cane or
walker) can be provided to decrease the risk of falls associated with
impairment of
balance or poor
coordination. Severe ataxia may eventually lead to the need for a
wheelchair.
The term "ataxia" is sometimes used in a broader sense to indicate
lack of coordination in some physiological process. Examples include optic ataxia
(lack of coordination between visual inputs and hand movements,
resulting in inability to reach and grab objects. Optic ataxia may be
caused by lesions to the posterior parietal cortex. The posterior
parietal cortex is responsible for combining and expressing positional
information and relating it to movement. Outputs of the posterior
parietal cortex include the spinal cord, brain stem motor pathways,
pre-motor and pre-frontal cortex, basal ganglia and the cerebellum. Some
neurons in the posterior parietal cortex are modulated by intention.
Optic ataxia is usually part of
Balint's syndrome,
but can be seen in isolation with injuries to the superior parietal
lobule, as it represents a disconnection between visual-association
cortex and the frontal premotor and motor cortex
[13]), and ataxic respiration (lack of coordination in respiratory movements, usually due to dysfunction of the respiratory centres in the
medulla oblongata
