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Ataxic Cerebral Palsy
Cerebral Palsy Ataxic Autosomal Recessive

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].

Entire Body System

  • Falling

    Because their balance is affected, the person may also fall without reason, or be unable to compensate for being accidentally bumped or for variations in the ground surfaces or an accidental mild bump from the side. [cerebralpalsy.org.au]

    People with ataxic cerebral palsy, who often struggle to maintain balance, can fall easily. Slight nudges or changes in a walking surface can also lead to a fall. [caringforspecialneedskids.com]

    Legs: (lower limbs): Walking if often difficult for those with ataxic CP and they are prone to regular falling. [birthinjuryguide.org]

    Says Hannah: “I don’t fall down any more, Mommy!” [theratogs.com]

  • Difficulty Walking

    It usually presents itself as lack of control in the arms and legs and difficulty walking. Ataxic cerebral palsy is a medical diagnosis, and ataxia in general is usually a symptom of an underlying occurrence. [hiehelpcenter.org]

    They can also have difficulty speaking, poor reflexes, and walking abnormalities. Ataxic cerebral palsy Ataxic CP is the least common type of CP. [healthline.com]

    Individuals may walk with an unsteady gait and have difficulty with motions that require precise coordination, such as writing. [christopherreeve.org]

    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]

Neurologic

  • Poor Coordination

    The word "ataxic" or "ataxia" means "poor coordination / lack of muscle control." When the cerebellum-the portion of the brain responsible for balance, depth perception, and coordination-is injured, the result may be ataxic cerebral palsy. [beasleyfirm.com]

    Characterised by low muscle tone and poor coordination of movement this is a relatively rare form of the condition affecting less than 10% of children with cerebral palsy. [jmw.co.uk]

    Ataxic cerebral palsy is characterized by poor coordination and unsteady movements Ataxic cerebral palsy affects 5 to 10 percent of individuals diagnosed with CP, research shows. It affects balance and depth perception. [elkandelk.com]

    Learn about this topic in these articles: characteristics In cerebral palsy Ataxic cerebral palsy is a rare form of the condition that is characterized by poor coordination, muscle weakness, an unsteady gait, and difficulty performing rapid or fine movements [britannica.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. He started ataxic gait at 8 years of age. He could vocalize only single sound for speech. MRI revealed cranium bifida and agenesis of anterior medullar velum. [ncbi.nlm.nih.gov]

    Because this condition affects all of the muscles, other symptoms include: Jerky speech Abnormal eye movements or nystagmus Difficulty with auditory or visual processing, which can lead to learning difficulties Schedule a Free Consultation with The Beasley [beasleyfirm.com]

    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. Finding Treatment Options As with any form of CP, treatment is very important. [cerebral-palsy-information.com]

  • Cerebellar Ataxia

    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. [symptoma.com]

    Her mother also had ataxia with spastic legs of early onset. She and her mother were thought to have an early-onset inherited non-progressive cerebellar ataxia syndrome. Case 2, a 8-year-old-girl had ataxic walk since 17 months of age. [ncbi.nlm.nih.gov]

    Sarah Bundey, Cerebellar and spinocerebellar ataxias, Genetics and Neurology, 10.1016/B978-0-443-02818-2.50017-7, (223-240), (1985). [doi.org]

    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. Overshooting the target is common while reaching. [theratogs.com]

  • Broad-Based Gait

    Patients with ataxic cerebral palsy will usually have a broad-based gait, i.e. they walk with their feet unusually far apart. They usually look very unsteady due to low muscle tone as the body has to constantly try to counter-balance itself. [medhelp.org]

    Showing of 9 | Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Broad-based gait Wide based walk 0002136 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebral palsy 0100021 Dysarthria [rarediseases.info.nih.gov]

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].

Treatment

Treatment by such teams involves multiple approaches. [en.wikipedia.org]

However, there are a variety of treatments, surgeries, and therapies that may lessen symptom severity for people with both ataxic cerebral palsy and other types. For more information on treating CP, click here. [abclawcenters.com]

Treatments for Ataxic Cerebral Palsy Since ataxic cerebral palsy results in muscle problems and incoordination, physical therapy is almost always recommended as part of an overall treatment plan. [cerebralpalsyguidance.com]

In this treatment, cooling of the forearm is achieved by wrapping the forearm, in a cryomanchet using a circulating fluid. After treatment, the intention tremors were reduced for approximately ½ hour. [dc-lawyer.com]

Although additional research is required to prove this treatment method, it demonstrates the potential for new physical therapy treatments. [childbirthinjuries.com]

Prognosis

While there are many facts surrounding the disease, the prognosis is often the most important one. [ataxiccerebralpalsyhelp.com]

Gabriella E Molnar, Cerebral Palsy: Prognosis and How to Judge It, Pediatric Annals, 10.3928/0090-4481-19791001-08, 8, 10, (43-56), (1979). Gabriella E. Molnar and Lawrence T. [doi.org]

Prognosis Most children survive to adulthood. Severe limitations in sucking and swallowing, which may require feeding by gastrostomy tube, decrease life expectancy. [merckmanuals.com]

Prognosis With appropriate therapeutic services, patients may be able to fully integrate academically and socially. [emedicine.medscape.com]

Etiology

Computed-tomography as an adjunct in etiologic analysis of hemiplegic cerebral-palsy. 1. Children born preterm. Neuropediatrics. 1991 ;22(1): 50 - 56. [doi.org]

Clinically and etiologically it belongs to heterogenic group. Practically diagnosis of ataxia is made applying the method of exclusion; in this case it becomes necessary to exclude existence of slowly progressing neurodegenerative disease. [questia.com]

Etiology Etiology of cerebral palsy is multifactorial, and a specific cause is sometimes hard to establish. Prematurity, in utero disorders, neonatal encephalopathy, and kernicterus often contribute. [merckmanuals.com]

Epidemiologic studies suggest that prenatal factors play a predominant role in the etiology of cerebral palsy. [emedicine.medscape.com]

Epidemiology

Cerebral palsy: classification and epidemiology. Physical Medicine and Rehabilitation Clinics of North America, 20(3), 425-452. doi: 10.1016/j.pmr.2009.06.001 See abstract Paneth, N. (2008). Establishing the diagnosis of cerebral palsy. [cerebralpalsy.org.au]

Additional impairments, as well as the presence of epilepsy, correlated significantly with walking ability and, thus, the walking ability can be an indicator of total disability load. children epidemiology cerebral palsy gross motor function impairments [pediatrics.aappublications.org]

Epidemiology Unfortunately, it is difficult to access and clarify the prevalence and incidence rate of disabilities in poor-resource settings (Gladstone, 2010). [physio-pedia.com]

The epidemiology of cerebral palsy: Incidence, impairments and risk factors. Disability and Rehabilitation, 28, 183–191. doi: 10.1080/09638280500158422. PubMed CrossRef Google Scholar Østensjø, S., Carlberg, E., & Vøllestad, N. K. (2003). [doi.org]

Epidemiologic studies suggest that prenatal factors play a predominant role in the etiology of cerebral palsy. [emedicine.medscape.com]

Pathophysiology

Pathophysiology of the corticospinal system and basal ganglia in cerebral palsy Corresponding Author E-mail address: [email protected] Smith Mental Retardation and Human Development Research Center and Department of Physiology, University of Kansas Medical [doi.org]

Pathophysiology Major events in human brain development and their peak times of occurrence include the following [19] : Primary neurulation – Weeks 3–4 of gestation Prosencephalic development – Months 2–3 of gestation Neuronal proliferation – Months 3 [emedicine.medscape.com]

Prevention

At the Rasansky Law Firm, we question why these healthcare professionals failed to do everything possible to prevent your child's injuries. [texasinjuryattorney.com]

Sadly, cerebral palsy sometimes results from a physician’s preventable mistake. [brain-injury-law-center.com]

Other causes include: High blood pressure in the mother Meningitis Bleeding on the brain Infection in baby or mother Lack of oxygen during delivery Some of these causes are more preventable than others. [oshmanlaw.com]

Challenges include ensuring the wellbeing of families as well as children; tackling the issues faced lifelong by people with cerebral palsy; and the continuing need for primary, secondary, and tertiary prevention of the effects of cerebral palsy on people's [doi.org]

[…] diagnosed with cerebral palsy, the ataxic cerebral palsy lawyers at Saiontz & Kirk, P.A. can investigate the circumstances surrounding the birth and have medical records reviewed by qualified experts to determine whether the cerebral palsy could have been prevented [youhavealawyer.com]

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.
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