Question

    Ataxia

    Ataxia is a condition, characterized by loss of muscle control over voluntary actions like walking. The condition can also affect speech, swallowing ability, and eye movements of the individuals.

    Presentation

    Poor coordination and lack of control over voluntary movements are the classical symptoms of ataxia. Choreoathetosis is present in few cases [5]. In addition, individuals with ataxia present with the following signs and symptoms:

    • Changes in speech, such as slurred speech
    • Inability to establish proper control over fine motor skills such as buttoning shirt, eating as well as writing
    • Poor coordination, which causes unsteady gait and instability while walking
    • Onset of nystagmus

    In elderly patients sense of vibrations and position is impaired. Development of postural abnormalities is seen in few people suffering from ataxia. Inelasticity and atrophy of facial muscles, and early aging is seen in few cases due to muscle weakness and fatigue. Mental deficiency is also reported in some cases [6].

    neurologic
    Tremor
    • The tremor is not as noticeable at rest).[fragilex.org]
    • Another common finding is action tremor (involuntary shaking during any movement) or intention tremor (involuntary shaking during purposeful movement).[britannica.com]
    • People with ataxia may have: Unsteady, shaky movements or tremor Difficulties maintaining balance People with ataxia appear very unsteady and shaky because their sense of balance and depth perception is affected.[cerebralpalsy.org.au]
    • Association with SCA8 at 13q21 FGF-14 protein Subfamily: FGF Homologous Factors (FHF) Expressed primarily in nervous system Intracellular Interacts with voltage gated Na channels Onset Childhood Tremor Clinical Tremor Limbs & Head Postural Exacerbated[neuromuscular.wustl.edu]
    • There may also be slurring of speech, tremor of the voice and ataxic respiration.[en.wikipedia.org]
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  • Workup

    A preliminary examination, to find the cause behind development of ataxia is considered. In addition to neurological examination to check for the functioning, various other tests are also carried out, which include:

    • Imaging tests: Various imaging studies such as CT scan and MRI are carried out to determine the causative factors. MRI and CT scan reveal cerebral white matter degeneration, along with onset of cerebral atrophy, which increases with advancing age. EMG test is done to monitor the nerve conduction velocity of the patient [7].
    • Spinal tap test: The cerebrospinal fluid is drawn using lumbar puncture technique, and is tested for abnormalities.
    • Genetic examination: This is required to study whether genetic mutations are the cause of ataxia.

    Treatment

    For ataxia, no specific treatment is available. Beta blockers can be helpful in improving fine motor movements. Antibiotics are given if needed.

    Increased oxidative stress in few cases of ataxia can be decreased, by the use of antioxidants [8]. In addition, several adaptive devices, along with therapies, can also be used to effectively manage the condition. Adaptive devices such as walking aids, communication aids, and use of modified utensils for eating are of help to individuals with ataxia.

    Prognosis

    The prognosis of ataxia is variable. It completely depends on the basic pathology.

    Complications

    Acute Disseminated Encephalomyelitis
    • Disorder Name Title Absence of the Septum Pellucidum Information Page Acid Lipase Disease Information Page Acid Maltase Deficiency Information Page Acquired Epileptiform Aphasia Acute Disseminated Encephalomyelitis Information Page ADHD Information Page[ninds.nih.gov]
    • Alongside multiple sclerosis and acute disseminated encephalomyelitis, autoantibody-associated disorders of the central nervous system (CNS) are the most common cause of ACA.[jneuroinflammation.biomedcentral.com]
    Multiple Sclerosis
    • Such conditions include cerebral palsy, brain tumor and multiple sclerosis.[symptoma.com]
    • Many conditions can cause ataxia, including alcohol abuse, certain medications, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis.[mayoclinic.org]
    • Types of ataxia There are many different types of ataxia, which can be divided into three broad categories: acquired ataxia – where symptoms develop as the result of trauma, a stroke , multiple sclerosis (MS) , a brain tumour , nutritional deficiencies[nhs.uk]
    • Ataxia epidemiology Of the three types of ataxia, acquired ataxia is the commonest type and is associated with brain infections or encephalitis, stroke and multiple sclerosis.[news-medical.net]
    • Many different things can cause ataxia, including multiple sclerosis , head trauma, alcohol abuse, stroke, cerebral palsy, genetics, or tumor .[medicalnewstoday.com]
    Spinocerebellar Ataxia Type 1
    • Kang S, Hong S ; Molecular pathogenesis of spinocerebellar ataxia type 1 disease.[patient.info]
    • Spinocerebellar Ataxia Type 1. 1998 Oct 1 [Updated 2014 Jul 3].[rarediseases.org]
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  • Etiology

    Ataxia occurs due to a dysfunction affecting cerebellum, which is a part of brain that coordinates movement. Any or all activities that cause damage to the cerebellum, can give rise to ataxia. Such conditions include cerebral palsy, brain tumor and multiple sclerosis. Ataxia can also be an outcome of head injury, brain surgery, systemic infections, paraneoplastic syndromes, transient ischemic attacks, and congenital anomalies of the cerebellum [2]. In addition to these factors, deficiency of vitamin E or B12 can also lead to development of ataxia.

    Epidemiology

    All the races and ethnicities are equally affected by ataxia. The occurrence rate is one in every one lac births. The condition occurs in both males and females equally, with no sex predilection. Death from ataxia may occur in the early adolescence or middle age depending on basic pathology [3].

    Sex distribution
    Age distribution

    Pathophysiology

    Anatomically, the cerebellum contains 2 small folded tissues that are situated at the base of the brain. The right and left side of the cerebellum are responsible, for controlling the movements of right, and left side of the body respectively. In few forms of ataxia, the damage or degeneration of the cells of cerebellum causes gradual loss of control over the voluntary actions. Several disease conditions or traumatic events, which damage the peripheral nerves connecting the cerebellum to the muscles lead to development of ataxia.

    Prevention

    In ataxia, regular intake of antibiotics to avoid lung and other systemic infections is proven helpful. Patients are encouraged to participate in the daily fitness programs, such as cycling, swimming, weight lifting to improve muscle strength and coordination. Regular exercise can avoid muscle contractures, and should therefore be practiced. Counseling about the disease through education programs, is provided to the family to educate them about the disease. Regular screening of cancer should be done to keep a check over malignancies [9].

    Summary

    Individuals with ataxia have trouble in synchronizing motions, such as range, velocity, direction and force. Individuals with ataxia have difficulty in walking, speaking and eye movements. Different types of ataxia include Friedreich's ataxia and spinocerebellar Ataxia type 6 [1].

    Patient Information

    • Definition: In ataxia the person is unable to make fine muscle movements, has difficulty in coordinating actions, abnormal eye movements and jerky movements of limbs are seen [10].
    • Cause: The cause of ataxia can due to focal lesion in the brain due to stroke, multiple sclerosis or brain tumor. Exogenous substance such as cannabis, drug abuse, ketamine can also cause ataxia. Vitamin B12 deficiency, radiation effects, hypothyroidism are other factors.
    • Symptoms: Patient presents with uncoordinated muscular movements, improper eye movements, difficulty in motion related to range, velocity and depth and slow muscular movements.
    • Diagnosis: Laboratory markers are essential in prognosis and diagnosis of ataxia. Physician may advice MRI or CT scan that shows the degeneration of white matter in advanced cases. Electromyography is done to study the nerve conduction velocity. 
    • Treatment: Ataxia does not have a specific line of treatment. Occupational and physical therapy is helpful in patients. Regular exercises are advised to improve muscle strength. Antibiotics are given to cure infections related to lungs and other organs. Beta blockers may help to improve muscle tones. Family education is necessary to provide support and proper care to the patient [11].

    Self-assessment

    References

    1. Ito M. Cerebellar circuitry as a neuronal machine. Prog Neurobiol. Feb-Apr 2006;78(3-5):272-303.
    2. Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. May 2004;3(5):291-304.
    3. Cooper EC, Jan LY. Ion channel genes and human neurological disease: recent progress, prospects, and challenges. Proc Natl Acad Sci U S A. Apr 27 1999;96(9):4759-66.
    4. Kullmann DM, Rea R, Spauschus A, Jouvenceau A. The inherited episodic ataxias: how well do we understand the disease mechanisms?. Neuroscientist. Feb 2001;7(1):80-8. 
    5. Tournier-Lasserve E. CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others.Neurology. Jul 13 1999;53(1):3-4.
    6. Batshaw ML. Inborn errors of urea synthesis. Ann Neurol. Feb 1994;35(2):133-41.
    7. Wendel U, Saudubray JM, Bodner A. Liver transplantation in maple syrup urine disease. Eur J Pediatr. Dec 1999;158 Suppl 2:S60-4.
    8. Zesiewicz TA, Greenstein PE, Sullivan KL et al. A randomized trila of varenicline (Chantix) for the treatment of spinocerebellar ataxia type 3. Neurology. Feb 2012;78:545-550.
    9. Pineda M, Arpa J, Montero R, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol. Nov 2008;12(6):470-5. 
    10. De Zeeuw C, Cicirate F. Bases and implications of learning in cerebellum- adaptive control and internal model mechanism. In: Creating Co-ordination in cerebellum. Prog. 1142. 148. Brain Res: Amsterdam: Elsevier; 2005:95-109.
    11. De Zeeuw C, Cicirate F. Bases and implications of learning in cerebellum- adaptive control and internal model mechanism. In: Creating Co-ordination in cerebellum. Prog. 1142. 148. Brain Res: Amsterdam: Elsevier; 2005:95-109.



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