Ataxic Cerebral Palsy (Cerebral Palsy Ataxic Autosomal Recessive)

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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.


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].

urogenital
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  • Eyes
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  • musculoskeletal
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  • neurologic
    Poor Coordination
    • Patients suffering from ataxic CP have poor coordination and walk unsteadily, usually placing their feet far apart.[elkandelk.com]
    • Medical Dictionary See What's Trending Now See More Trending Words What's Trending Now More Trending Words medical Definition of ataxic cerebral palsy : cerebral palsy marked by hypotonic muscles and poor coordination and balance Seen and Heard What made[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]
    • Thus, common symptoms include: Tremors and/or arms and hands that shake because of poor coordination and inaccurate movements Difficulty with repetitious movements, like clapping or writing Trouble walking Walking with a wide gait that puts their feet[cerebralpalsysymptoms.com]
    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[birthinjurysafety.org]
    • The most-common facial symptoms of ataxic CP are jerky speech patterns and abnormal eye movements called nystagmus.[cerebral-palsy-information.com]
    • The child was noted to have delayed head control at 6 months, with head nodding and rotatory nystagmus.[academic.oup.com]
    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]
    • Hallmark signs of cerebellar ataxia include a wide-base of support in standing, with staggering, frequent collisions with walls and objects, and frequent falling while walking.[theratogs.com]
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  • Entire body system
    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]
    • His or her depth perception and sense of balance will be compromised, and he or she may walk with a wide gait to keep from falling down.[injurylawyerdatabase.com]
    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]
    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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  • 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

    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]
    • Hallmark signs of cerebellar ataxia include a wide-base of support in standing, with staggering, frequent collisions with walls and objects, and frequent falling while walking.[theratogs.com]
    Ataxic Cerebral Palsy
    • "A gene for ataxic cerebral palsy maps to chromosome 9p 12-q12".[en.wikipedia.org]
    • What is Ataxic Cerebral Palsy Ataxic cerebral palsy is a type of cerebral palsy that affects a person’s balance, coordination, and depth perception.[cerebralpalsygroup.com]
    • Ataxic cerebral palsy is considered to be the rarest form of the condition.[cpcare.org]
    Fever
    • For example maternal fever in labour is associated with an increased risk of cerebral palsy ( Grether and Nelson, 1997 ).[academic.oup.com]
    Prader-Willi Syndrome
    • Causes Ataxic cerebral palsy may be caused by a birth injury or birthing trauma, environmental factors, or by genetic, muscle, or central nervous system disorders such as down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic[cpfamilynetwork.org]

    Etiology

    Causes

    Epidemiology

    Sex distribution
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    Pathophysiology

    Prevention

    Summary

    Patient Information

    Other symptoms

    No Family History
    • During the assessment, physicians will look for abnormal posture and muscle tone, slow development of motor skills, your child’s family history, and any factors that may have caused medical problems, such as a previous accident involving head trauma.[birthinjuryguide.org]
    • history, and any factors that might influence the diagnosis, such as injury or trauma . [7] Associated disabilities such as those previously described under symptoms associated with ataxic cerebral palsy, i.e., sensory impairment and cognitive dysfunction[en.wikipedia.org]
    • He is the second child of healthy non-consanguineous parents, with no family history of neurological disorders.[academic.oup.com]
    Head Tremor
    • Botox which relaxes tightened muscles has been effective in treating voice, hand and head tremors.[cerebralpalsylawdoctor.com]
    • Botox which relaxes tightened muscles has been effective in treating voice, hand and head tremors . [4] A few recently published papers outlined a potential method for treating intention tremor which consisted of cooling the forearm by wrapping it in[en.wikipedia.org]
    No Sensory Impairment
    • ., sensory impairment and cognitive dysfunction , are also helpful in diagnosing the disease.[en.wikipedia.org]
    Caffeine
    • […] prolonging the pregnancy using interventions such as 17-alpha progesterone , limiting the number of gestations during pregnancy (for pregnancies induced by assistive reproductive technology), antenatal steroid for mothers likely to deliver prematurely, high caffeine[en.wikipedia.org]
    Aerobic Exercise
    • "A systematic review of the effectiveness of aerobic exercise interventions for children with cerebralpalsy: an AACPDM evidence report".[en.wikipedia.org]

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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.

    1. Ataxia-telangiectasia - E Boder, RP Sedgwick - Pediatrics, 1958 - Am Acad Pediatrics
    2. Cerebral palsy epidemiology: where are we now and where are we going? - L Mutch, E Alberman, B Hagberg - Medicine & Child , 1992 - Wiley Online Library
    3. A report: the definition and classification of cerebral palsy April 2006 - P Rosenbaum, N Paneth, A Leviton - Dev Med Child , 2007 - Wiley Online Library
    4. A neurophysiological basis for the treatment of cerebral palsy - K Bobath - 1991 - books.google.com
    5. Cerebral palsy-definition, classification, etiology and early diagnosis - C Sankar, N Mundkur - Indian journal of Pediatrics, 2005 - Springer
    6. A neurophysiological basis for the treatment of cerebral palsy - K Bobath - 1991 - books.google.com
    7. Cerebral palsy: an overview - KW Krigger - American family physician, 2006 - media.kenanaonline.com
    8. A survey of 400 cases of cerebral palsy in childhood - P Asher, FE Schonell - Archives of disease in childhood, 1950 - adc.bmj.com
    9. Ataxia telangiectasia - HL Utian, M Plit - Journal of Neurology, Neurosurgery, and , 1964 - ncbi.nlm.nih.gov
    10. 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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