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    Ataxic Cerebral Palsy (Cerebral Palsy Ataxic Autosomal Recessive)

    Cerebellum animation small[1]

    Cerebral palsy is a nonprogressive neurological disorder characterized by various cognitive, behavioral and motor disturbances that are present from early life. Ataxic cerebral palsy is one of the four subtypes in which cerebellar symptoms of impaired coordination and gait disturbances predominate. Neuroimaging procedures, primarily magnetic resonance imaging (MRI), can detect parenchymal abnormalities in the majority of cases.

    The disease originates from this process: congenital.

    Presentation

    Cerebral palsy (CP) encompasses several motor, behavioral and cognitive childhood disorders of the brain that develop as a result of improper brain development or injury [1] [2]. It is a rather common clinical entity, seen in approximately 1-2 per 1000 individuals, but the risk increases up to 100 times in severely preterm newborns, thus supporting the theory of brain dysgenesis as the main factor for the appearance of CP [1]. Based on the clinical presentation, four main categories are recognized - spastic, athetoid (or dyskinetic), ataxic and mixed, with ataxic CP comprising 5-10% of cases [2] [3]. The name "ataxic" implies that the main symptoms are related to the cerebellum and its functions, such as coordination and muscle movement difficulties, as well as the inability to maintain balance and posture [2] [4]. Patients are often unable to perform the desired task, as they are unable to control the rhythm, force or accuracy of movement, particularly with fine and rapid movements [3] [4]. Furthermore, generalized hypotonia, seizures, language disorders and tremor are frequently observed in this group of individuals [2] [4]. An important feature of CP, particularly the ataxic form, is the nonprogressive nature of symptoms, which is why the term "nonprogressive cerebellar ataxia" is mentioned as a synonym in the medical literature [2].

    Jaw & Teeth
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  • Entire body system
    Difficulty Walking
    • Some people with CP may have difficulty walking and sitting.[healthline.com]
    • Some will go on to have difficulty walking.[gosh.nhs.uk]
    • People with spastic diplegia might have difficulty walking because tight hip and leg muscles cause their legs to pull together, turn inward, and cross at the knees (also known as scissoring ).[cdc.gov]
    Falling
    • Slight nudges or changes in a walking surface can also lead to a fall.[caringforspecialneedskids.com]
    • Effect on the lower limbs (legs) When ataxia affects walking, a person is unstable and likely to fall.[cerebralpalsy.org.au]
    • Legs: (lower limbs): Walking if often difficult for those with ataxic CP and they are prone to regular falling.[birthinjuryguide.org]
    • Frequent fall is very common and sometimes by mistake, their gait pattern is perceived as they are under the influence of alcohol.[trishlafoundation.com]
    • And if this shakiness is affecting the muscles in the legs, they'll likely be pretty unstable, pretty shaky when they're standing or trying to walk, and this can often lead to falls.[khanacademy.org]
    Fever
    • For example maternal fever in labour is associated with an increased risk of cerebral palsy ( Grether and Nelson, 1997 ).[academic.oup.com]
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  • neurologic
    Nystagmus
    • The most common facial ataxic symptoms are jerky speech patterns and abnormal eye movements called nystagmus.[redbridgeserc.org]
    • Case 5, a 8-year-old boy showed head nodding and nystagmus since 4 months of age.[ncbi.nlm.nih.gov]
    • Ataxic cerebral palsy can cause the following symptoms: Speaking problems Difficulty swallowing Weak muscles and the inability to control muscles Poor coordination Nystagmus (inability to control eye movement) Tremors Difficulties with balance Compensation[trialfirm.com]
    Poor Coordination
    • Patients suffering from ataxic CP have poor coordination and walk unsteadily, usually placing their feet far apart.[elkandelk.com]
    • Ataxic means poor coordination.[cerebral-palsy-information.com]
    • See What's Trending Now See More Trending Words Medical Dictionary Medical Definition of ataxic cerebral palsy : cerebral palsy marked by hypotonic muscles and poor coordination and balance Seen and Heard What made you want to look up ataxic cerebral[merriam-webster.com]
    • How Ataxic Cerebral Palsy Affects the Body Ataxic cerebral palsy is a form of cerebral palsy that is characterized by low muscle tone and poor coordination.[litigationteam.com]
    • When children develop ataxic cerebral palsy, they suffer from poor coordination and diminished muscle tone.[injurylawyerdatabase.com]
    Slurred Speech
    • His further studies of the late 19th century noted symptoms including tremor, hypotonia, diminished or lost tendon jerks, and slurred speech.[en.wikipedia.org]
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  • musculoskeletal
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  • urogenital
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  • Workup

    A comprehensive workup is necessary for patients in whom CP is included in the differential diagnosis, as dozens of congenital and genetic disorders have similar signs and symptoms [2]. Firstly, a detailed interview with the parents regarding the appearance and progression of symptoms should be conducted, whereas a complete physical examination, particularly focused on the neurological exam and assessment of motor function, can roughly make a distinction between various types of CP and thus aid in making a presumptive diagnosis [5]. There should be a strong clinical suspicion of CP if nonprogressive generalized hypotonia and ataxic symptoms are present [3], in which case neuroimaging studies need to be performed as soon as possible. Magnetic resonance imaging (MRI) is able to detect parenchymal defects of the brain in up to 86% of ataxic CP cases, and some of the most common findings are periventricular leukomalacia (lesions of the white matter), hydrocephalus, schizencephaly (the appearance of clefts in the brain), poorly developed corpus callosum, and cerebellar abnormalities, a hallmark of ataxic CP [1] [6]. Computed tomography (CT) can also be performed as an initial method for assessment of the brain, but many studies have identified its inferiority to MRI in detecting lesions suggestive of CP [1] [5] [6].

    Laboratory

    Serum
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  • Treatment

    Prognosis

    Complications

    Ataxic Cerebral Palsy
    • Ataxic cerebral palsy is known to decrease muscle tone.[en.wikipedia.org]
    • Ataxic cerebral palsy is considered to be the rarest form of the condition.[cpcare.org]
    Cerebellar Ataxia
    • She and her mother were thought to have an early-onset inherited non-progressive cerebellar ataxia syndrome.[ncbi.nlm.nih.gov]
    • Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII .[academic.oup.com]
    • An important feature of CP, particularly the ataxic form, is the nonprogressive nature of symptoms, which is why the term "nonprogressive cerebellar ataxia " is mentioned as a synonym in the medical literature [2].[symptoma.com]
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  • Etiology

    Epidemiology

    Sex distribution
    Age distribution

    Pathophysiology

    Prevention

    Summary

    Patient Information

    Self-assessment

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    References

    1. O’Shea TM. Diagnosis, Treatment, and Prevention of Cerebral Palsy in Near-Term/Term Infants. Clin Obstet Gynecol. 2008;51(4):816-828.
    2. Lee RW, Poretti A, Cohen JS, et al. A Diagnostic Approach for Cerebral Palsy in the Genomic Era. Neuromolecular Med. 2014;16(4):821-844.
    3. Porter RS, Kaplan JL. Merck Manual of Diagnosis and Therapy. 19th Edition. Merck Sharp & Dohme Corp. Whitehouse Station, N.J; 2011.
    4. Surveillance of Cerebral Palsy in Europe. Surveillance of cerebral palsy in Europe: a collaboration of cerebral palsy surveys and registers. Surveillance of Cerebral Palsy in Europe (SCPE). Dev Med Child Neurol. 2000;42(12):816-824.
    5. Hadders-Algra M. Early Diagnosis and Early Intervention in Cerebral Palsy. Front Neurol. 2014;5:185.
    6. Korzeniewski SJ, Birbeck G, DeLano MC, Potchen MJ, Paneth N. A systematic review of neuroimaging for cerebral palsy. J Child Neurol. 2008;23(2):216-227.

    • A neurophysiological basis for the treatment of cerebral palsy - K Bobath - 1991 - books.google.com
    • A report: the definition and classification of cerebral palsy April 2006 - P Rosenbaum, N Paneth, A Leviton - Dev Med Child , 2007 - Wiley Online Library
    • Cerebral palsy: an overview - KW Krigger - American family physician, 2006 - media.kenanaonline.com
    • A survey of 400 cases of cerebral palsy in childhood - P Asher, FE Schonell - Archives of disease in childhood, 1950 - adc.bmj.com
    • Cerebral palsy-definition, classification, etiology and early diagnosis - C Sankar, N Mundkur - Indian journal of Pediatrics, 2005 - Springer
    • Ataxia telangiectasia - HL Utian, M Plit - Journal of Neurology, Neurosurgery, and , 1964 - ncbi.nlm.nih.gov
    • A neurophysiological basis for the treatment of cerebral palsy - K Bobath - 1991 - books.google.com
    • Cerebral palsy epidemiology: where are we now and where are we going? - L Mutch, E Alberman, B Hagberg - Medicine & Child , 1992 - Wiley Online Library
    • Ataxia-telangiectasia - E Boder, RP Sedgwick - Pediatrics, 1958 - Am Acad Pediatrics
    • A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. - DP McHale, AP Jackson, MI Levene, P Corry - European journal of , 2000 - ukpmc.ac.uk

    Media References

    1. Cerebellum animation small, CC BY-SA 2.1 JP

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