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Hereditary Cerebellar Degeneration

Familial Cerebellar Degeneration


Presentation

  • Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs. Typically ataxia and bulbar dysfunction are pronounced.[radiopaedia.org]
  • Spino-cerebellar dysfunction presents with a wide-based "drunken sailor" gait, characterised by uncertain start and stop, lateral deviations, and unequal steps.[psychology.wikia.com]
  • Reduced diffusivity and abnormal MR spectroscopy peaks can also be present.[ajnr.org]
  • Many different types of inherited ataxias are presently known. Examples include Machado-Joseph disease, ataxia-telangiectasia, and Friedreich ataxia.[encyclopedia.com]
  • A diagnosis of SCA is suspected if the person presents with the adult onset of the symptoms associated with the disorder.[disabled-world.com]
Falling
  • When TP started seeing me he had been falling and had sustained multiple different fractures of his feet and ankles over the past 2-3 yrs. He found it was more difficult to walk on uneven surfaces and keep his balance.[acupuncturedoctor.net]
  • The disability of ataxia may be reduced by physical therapy, including exercises, along with leg braces or shoe splints, if foot alignment has been affected; a cane or walker is often used in the effort to prevent falls.[psychology.wikia.com]
  • I have slurred speech, frequent weak spells, weak spells in my voice, depressed most of the time, sexual impotency, occasional falling or stumbling,occasional tremors in the left hand,lack of balance and coordination, numbness in right leg after standing[medhelp.org]
  • Acquired ataxia Acquired ataxia can have a wide range of potential causes, including: severe head injury – after a car crash or fall , for example bacterial brain infection, such as meningitis or encephalitis (an infection of the brain itself) viral infection[nhs.uk]
  • Many symptoms of Ataxia can mimic those of being drunk – slurred speech, stumbling, falling, and incoordination. All are related to degeneration of the part of the brain, called the cerebellum, that is responsible for coordinating movement.[ataxia.org]
Fatigue
  • Efficacy and safety of modafinil (Provigil) for the treatment of fatigue in multiple sclerosis: a two centre phase 2 study. J Neurol Neurosurg Psychiatry 2002:72:l79-l83. ‏[books.google.com]
  • Signs and symptoms of ataxia may be worsened by: Fatigue Alcohol use Anxiety or stress Medications that affect the brain, such as excessive doses of medicine prescribed for insomnia, anxiety or mood disorders.[hopkinsmedicine.org]
  • Fatigue Many people with neurological conditions such as ataxia report feeling extremely tired and lethargic (lacking in energy).[nhsdirect.wales.nhs.uk]
  • Symptoms of cerebellar ataxia include: Behavior or personality changes Changes in your voice Dizziness Fatigue Headaches Low muscle tone Muscle tremors Slurred speech Trouble walking Wide gait Sensory Ataxia Sensory ataxia is the result of damage to nerves[webmd.com]
Difficulty Walking
  • Common symptoms of Ataxia are lack of coordination, slurred speech, trouble eating and swallowing, eye movement abnormalities, deterioration of fine motor skills, difficulty walking, gait abnormalities, tremors, and heart problems.[ataxia.org]
  • Difficulty walking, loss of muscle control, loss of fine-movement coordination of hands, and absence of tendon reflexes are the main symptoms observed in this progressive and crippling condition.[encyclopedia.com]
  • In addition, the Extended Disability Status Scale was used; this scale may be insensitive to gait changes in patients with difficulty walking.[movementdisorders.org]
Amyloidosis
  • Diseases of the nervous system G32.8 ICD-10-CM Diagnosis Code G32.8 Other specified degenerative disorders of nervous system in diseases classified elsewhere 2016 2017 2018 2019 Non-Billable/Non-Specific Code Code First underlying disease, such as: amyloidosis[icd10data.com]
Ataxia
  • In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II.[ncbi.nlm.nih.gov]
  • The authors investigated the presence of antiganglioside antibodies in 22 patients with hereditary and nonhereditary ataxia and found 64% reactive in a novel agglutination test. Received July 22, 2002. Accepted January 9, 2003.[neurology.org]
  • Autosomal Dominant Ataxia Gene Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene.[ataxia.org]
  • Some of the specific types of genetic ataxia include: Ataxia telangiectasia Ataxia with oculomotor apraxia Dominant spastic ataxias Dominant spinocerebellar ataxias ( SCA ) Episodic ataxia Friedreich's ataxia Recessive spastic ataxias Wilson’s disease[webmd.com]
  • , autosomal dominant spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, and episodic ataxias.[medlink.com]
Ataxia
  • In several of the hereditary ataxias, the causative gene plays an important role in DNA repair: ataxia telangiectasia and ataxia telangiectasia-like disorder, and ataxia with oculomotor apraxia type I and II.[ncbi.nlm.nih.gov]
  • The authors investigated the presence of antiganglioside antibodies in 22 patients with hereditary and nonhereditary ataxia and found 64% reactive in a novel agglutination test. Received July 22, 2002. Accepted January 9, 2003.[neurology.org]
  • Autosomal Dominant Ataxia Gene Each child of a parent with an autosomal dominant Ataxia gene has a 50% chance of inheriting the Ataxia gene.[ataxia.org]
  • Some of the specific types of genetic ataxia include: Ataxia telangiectasia Ataxia with oculomotor apraxia Dominant spastic ataxias Dominant spinocerebellar ataxias ( SCA ) Episodic ataxia Friedreich's ataxia Recessive spastic ataxias Wilson’s disease[webmd.com]
  • , autosomal dominant spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, and episodic ataxias.[medlink.com]
Cerebellar Ataxia
  • […] of physical therapy for cerebellar ataxia.[intechopen.com]
  • This article specifically focuses on acquired causes of cerebellar ataxia. A separate complementary article discusses common hereditary causes of cerebellar ataxia.[els.net]
  • .-) metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia Inclusion term(s): Early-onset cerebellar ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset[icd10coded.com]
  • Autosomal dominant cerebellar ataxia type II represents cerebellar ataxia with pigmentary retinal degeneration. Autosomal dominant cerebellar ataxia type III produces relatively pure cerebellar signs.[medlink.com]
  • ataxia associated with another disorder Secondary cerebellar ataxia ICD-10-CM G32.81 is grouped within Diagnostic Related Group(s) (MS-DRG v 36.0): 058 Multiple sclerosis and cerebellar ataxia with mcc 059 Multiple sclerosis and cerebellar ataxia with[icd10data.com]
Cerebellar Ataxia
  • […] of physical therapy for cerebellar ataxia.[intechopen.com]
  • This article specifically focuses on acquired causes of cerebellar ataxia. A separate complementary article discusses common hereditary causes of cerebellar ataxia.[els.net]
  • .-) metabolic disorders ( E70 - E88 ) G11.0 Congenital nonprogressive ataxia G11.1 Early-onset cerebellar ataxia Inclusion term(s): Early-onset cerebellar ataxia with essential tremor Early-onset cerebellar ataxia with myoclonus [Hunt's ataxia] Early-onset[icd10coded.com]
  • Autosomal dominant cerebellar ataxia type II represents cerebellar ataxia with pigmentary retinal degeneration. Autosomal dominant cerebellar ataxia type III produces relatively pure cerebellar signs.[medlink.com]
  • ataxia associated with another disorder Secondary cerebellar ataxia ICD-10-CM G32.81 is grouped within Diagnostic Related Group(s) (MS-DRG v 36.0): 058 Multiple sclerosis and cerebellar ataxia with mcc 059 Multiple sclerosis and cerebellar ataxia with[icd10data.com]
Tremor
  • Rhythmic, alternating, oscillatory movement of a limb as it approaches a target (intention tremor) or of proximal musculature when fixed posture or weight bearing is attempted (postural tremor) Such malformations are almost always sporadic, often occurring[msdmanuals.com]
  • In general there is wide legged and unsteady walk with tremors in the trunk of the body and jerky movements of the arms or legs. Patients may also exhibit slow and slurred speech; nystagmus is also a feature commonly seen.[kenhub.com]
  • The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body.[ninds.nih.gov]
  • Cerebellar degeneration is primarily characterized by a wide-legged, unsteady, lurching walk that is usually accompanied by a back and forth tremor in the trunk of the body.[rarediseases.info.nih.gov]
  • I have slurred speech, frequent weak spells, weak spells in my voice, depressed most of the time, sexual impotency, occasional falling or stumbling,occasional tremors in the left hand,lack of balance and coordination, numbness in right leg after standing[medhelp.org]

Workup

MRI Shows Cerebellar Atrophy
  • In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy.[ncbi.nlm.nih.gov]
MRI Shows Cerebellar Atrophy
  • In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy.[ncbi.nlm.nih.gov]

Treatment

  • Efficacy and safety of modafinil (Provigil) for the treatment of fatigue in multiple sclerosis: a two centre phase 2 study. J Neurol Neurosurg Psychiatry 2002:72:l79-l83. ‏[books.google.com]
  • Few of these disorders are amenable to effective treatment, the most important of these being vitamin E-responsive ataxia. The autosomal dominant spinocerebellar ataxias are rare in childhood.[ncbi.nlm.nih.gov]
  • To identify relevant publications, a PubMed search using the terms “treatments of cerebellar ataxias,” “degenerative cerebellar ataxia treatment,” and “treatment of hereditary cerebellar ataxia” was conducted.[movementdisorders.org]
  • Rosanne Sant tried to find the best treatment for Ataxia, but Australia had little to offer in this regard. She then sought for treatment abroad and found out about us.[globalstemcells.com]

Prognosis

  • Prognosis Prognosis is highly variable between the different types but improvement is unlikely.[patient.info]
  • Prognosis The long-term outlook for people with cerebellar degeneration varies depending on its underlying cause. x Prognosis The long-term outlook for people with cerebellar degeneration varies depending on its underlying cause.[ninds.nih.gov]
  • Biventral lobule of the cerebellum Management Management and prognosis of cerebellar degeneration and cerebellar atrophyare dependent upon the underlying cause of the damage.[kenhub.com]
  • The long-term outlook ( prognosis ) for people with cerebellar degeneration varies depending on the underlying cause. [3] Last updated: 12/15/2014 We hope this information is helpful.[rarediseases.info.nih.gov]
  • These evaluations may demonstrate that the patient requires rehabilitation following discharge, and, depending upon the prognosis, even long-term placement in a skilled nursing facility. F. Prognosis and Patient Counseling.[clinicaladvisor.com]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Etiology The exact etiology of MSC-c is unknown while the presence of cytoplasmic aggregates of α-synuclein, primarily in the oligodendroglia, in combination with predominant neurodegeneration of the olivopontocerebellar structures are pathological hallmark[orpha.net]
  • She divided those with a known etiology (eg, abetalipoproteinemia, ataxia telangiectasia) from those whose etiology was unknown (eg, Friedreich ataxia, Ramsay Hunt syndrome, cerebellar ataxia with retinal degeneration).[medlink.com]
  • Code First Code First Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy.[movementdisorders.org]

Epidemiology

  • For a discussion of epidemiology and pathology, please refer to: multiple systemic atrophy (MSA). Clinical presentation Olivopontocerebellar degeneration presents predominantly with cerebellar and brainstem symptoms and signs.[radiopaedia.org]
  • Summary Epidemiology MSA-c is observed predominantly in patients from Asia.[orpha.net]
  • Epidemiology Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ].[patient.info]
  • The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al.[rarediseases.org]
  • Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics. Brain. 2003;126:685-91. Hou J-G, Jankovic J. Movement disorders in Friedreich's ataxia. J Neurol Sci. 2003;206:59-64. Jankovic J, Tolosa E, eds.[bcm.edu]
Sex distribution
Age distribution

Pathophysiology

  • . • Researchers are rapidly learning about the underlying pathophysiology behind the inherited ataxia syndromes.[medlink.com]
  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]
  • […] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological[movementdisorders.org]

Prevention

  • Prevention. Problem solving. Calculation of genetic risk. 1.[en.medicine-guidebook.com]
  • Research is being conducted on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause(s) of ataxias and ways to treat, cure, and ultimately prevent them, according to the National Institute of Neurological Disorders and[columbianeurology.org]
  • Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ]. Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes.[patient.info]
  • The disability of ataxia may be reduced by physical therapy, including exercises, along with leg braces or shoe splints, if foot alignment has been affected; a cane or walker is often used in the effort to prevent falls.[psychology.wikia.com]
  • Physiotherapy If you have ataxia, physiotherapy can help you maintain the use of your arms and legs, and prevent your muscles weakening or getting stuck in one position (contractures).[nhsdirect.wales.nhs.uk]

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