Ataxia

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Ataxia
ICD-10	R27.0
ICD-9	781.3

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor in Chief: M.Umer Tariq [2] Raviteja Guddeti, M.B.B.S. [3]

Synonyms and keywords: unsteady gait, ataxy, staggering gait

Overview

Ataxia (from Greek α- [used as a negative prefix] + -τάξις [order], meaning "lack of order") is a neurological sign and symptom consisting of gross incoordination of muscle movements. Ataxia is an aspecific clinical manifestation implying dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. Several possible causes exist for these patterns of neurological dysfunction. The term "dystaxia" is rarely used as a synonym.

The International Ataxia Awareness Day is observed on September 25th each year.

Classification of ataxia

Cerebellar ataxia

The term cerebellar ataxia is employed to indicate ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits, such as antagonist hypotonia, asynergy, dysmetria, dyschronometria, and dysdiadochokinesia. How and where these abnormalities manifest depend on which cerebellar structures are lesioned, and whether the lesion is bilateral or unilateral. Vestibulo-cerebellar dysfunction presents with postural instability, in which the person tends to separate the feet on standing to gain a wider base, and avoid oscillations (especially posterior-anterior ones); instability is therefore worsened when standing with the feet together (irrespective of whether the eyes are open or closed: this is a negative Romberg's test). Spino-cerebellar dysfunction presents with a wide-based "drunken sailor" gait, characterised by uncertain start and stop, lateral deviations, and unequal steps. Cerebro-cerebellar dysfunction presents with disturbances in carrying out voluntary movements, including intention tremor (coarse trembling, accentuated over the execution of voluntary movements, possibly involving the head and eyes as well as the limbs and torso), peculiar writing abnormalities (large, unequal letters, irregular underlining), and a peculiar pattern of dysarthria (slurred speech, sometimes characterised by explosive variations in voice intensity despite a regular rhythm).

Sensory ataxia

The term sensory ataxia is employed to indicate ataxia due to loss of proprioception (sensitivity to joint and body part position), which generally depends on dysfunction of the dorsal columns of the spinal cord, since they carry proprioceptive information up to the brain; in some cases, the cause may instead be dysfunction of the various brain parts that receive that information, including the cerebellum, thalamus, and parietal lobes. Sensory ataxia presents with an unsteady "stomping" gait with heavy heel strikes, as well as postural instability that is characteristically worsened when the lack of proprioceptive input cannot be compensated by visual input, such as in poorly lit environments. Doctors can evidence this during physical examination by having the patient stand with his / her feet together and eyes shut, which will cause the patient's instability to markedly worsen, producing wide oscillations and possibly a fall (this is called a positive Romberg's test). Worsening of the finger-pointing test with the eyes closed is another feature of sensory ataxia. Also, when the patient is standing with arms and hands extended toward the examiner, if the eyes are closed, the patient's finger will tend to "fall down" and be restored to the horizontal extended position by sudden extensor contractions ("ataxic hand").

Vestibular ataxia

The term vestibular ataxia is employed to indicate ataxia due to dysfunction of the vestibular system, which in acute and unilateral cases is associated with prominent vertigo, nausea and vomiting. In slow-onset, chronic bilateral cases of vestibular dysfunction, these characteristic manifestations may be absent, and dysequilibrium may be the sole presentation.

Causes

Common Causes

• Stroke
• Brain tumor
• Multiple sclerosis
• Alcoholism
• Head trauma
• Cerebral palsy
• Drug intoxication
• Heavy metal poisoning
• Hereditary ataxias
  • Spinocerebellar ataxias
  • Friedreich's ataxia
  • Ataxia-telangiectasia
• Wilson's disease

Causes by Organ System

Cardiovascular	Arteriosclerosis, Circulation disorders in area of brain stem, Morgagni's Syndrome
Chemical / poisoning	2,4,6-Trichlorophenol, Acrylamide, Aftershave, Amitraz, Aniline, Antifreeze, Apple seed poisoning, Arizona Bark Scorpion poisoning, Benzene, Blue-ringed octopus poisoning, Buckeye poisoning, Carbon monoxide poisoning, Death Camas poisoning, English Ivy poisoning, Gasoline, Lantana poisoning, Lead, Mayapple poisoning, Mercury, Mescal poisoning, Minamata disease, Mistletoe poisoning, Thallium poisoning, Tolterodine toxicity, Toxic mushrooms -- Anticholinergic, Toxic mushrooms -- Monomethylhydrazine, Toxic mushrooms -- Psychedelic, Varnish makers' and painters' Naptha, Xylene
Dermatologic	No underlying causes
Drug Side Effect	Amiodarone, Barbituates, Benzodiazepines, Ethosuximide, Gabapentin, Lamotrigine, Levetiracetam, Metronidazole, Morphine, Oxcarbazepine, Primidone
Ear Nose Throat	Acoustic neurinoma, Benign Paroxysmal Positional Vertigo, Reardon-Wilson-Cavanagh syndrome, Richards-Rundle syndrome, Susac syndrome, Treft-Sanborn-Carey syndrome
Endocrine	Adult-onset adreno leukodystrophy, Diabetic neuropathy, Functioning pancreatic endocrine tumor, Furukawa-Takagi-Nakao syndrome, Hypogonadism, Hypothyroidism, Insulinoma, Metastatic insulinoma, Morgagni's Syndrome
Environmental	Acute altitude sickness
Gastroenterologic	Bassen-Kornzweig syndrome, Celiac disease, Cirrhosis, Dykes-Markes-Harper syndrome, Hepatocerebral degeneration, Wilson's Disease
Genetic	Alpers Syndrome, Angleman syndrome, Bangstad syndrome, Bassen-Kornzweig syndrome, Bhaskar-Jagannathan syndrome, Cerebellar ataxia, Cockayne syndrome, Dravet syndrome, Familial isolated deficiency of vitamin E, Familial periodic ataxia, Feline spongiform encephalopathy, Friedreich's ataxia, Griscelli disease, Hallervorden-Spatz disease, Hereditary spastic paraparesis, Krabbe leukodystrophy, Richards-Rundle syndrome, Roussy-Levy syndrome, Rubinstein-Taybi syndrome, Sialidosis type 1 and 3, Tranebjaerg-Svejgaard syndrome, Xeroderma pigmentosum, X-linked sideroblastic anaemia
Hematologic	Acanthocytosis, Ataxia-teleangiectasia,
Iatrogenic	No underlying causes
Infectious Disease	Chickenpox, HIV infection, Smallpox,
Musculoskeletal / Ortho	Myopathy,
Neurologic	Acute Disseminated Encephalomyelitis, Alexander Syndrome, Alpers Syndrome, Arachnoid Cysts, Arnold-Chiari Malformation, ARTS syndrome, Ataxia deafness reardon type, Ataxia tapetoretinal degeneration, Ataxia telangiectasia / Louis-Bar syndrome, Ataxia-oculomotor apraxia syndrome, Basal ganglia calcification, Basilar artery migraine, Vertebro-basilar artery ischemia, Brain abscess, Brain cancer, Brain cyst, Brain injury, Brainstem or cortical lesions, Central nervous system lymphoma, primary, Cerebellar abscess, Cerebellar ataxia, Cerebellar cortex atrophy, Cerebellar degeneration, Cerebellar haemorrhage, Cerebellar heredoataxia, Cerebellar hypoplasia, Cerebellar infarct, Cerebellar mass, Cerebral Amyloid Angiopathy, Familial, Cerebral hemorrhage, Cerebral infarction, Cerebral palsy, Cerebrorenodigital syndrome, Cerebrovascular accident, Ceroid lipofuscinosis, Cervical myelopathy, Chorea familial benign, Chronic progressive traumatic encephalopathy, Cockayne syndrome, Combarros Calleja Leno syndrome, Corneal cerebellar syndrome, Creutzfeldt-Jakob disease, Cutler-Bass-Romshe syndrome, Dandy-Walker Syndrome, Dementia pugilis, Demyelinating disorder, DeSanctis-Cacchione syndrome, Dinno-Shearer-Weisskopf syndrome, Dravet syndrome, Dykes-Markes-Harper syndrome, Dysequilibrium syndrome, Encephalitis, Encephalocele frontal, Epiphyseal tumor, Episodic ataxia, Erythrokeratodermia with ataxia, Feline spongiform encephalopathy, Fisher's Syndrome, Friedreich's ataxia, Frontal lobe lesion, GALOP Syndrome (gait disorder, autoantibodies, late age onset, polyneuropathy), Glioma, Granulomatous Angiitis of the central nervous system, Guillain-Barré syndrome, Hallervorden-Spatz disease, Heidenhain syndrome, Hepatocerebral degeneration, Hydrocephalus, Infantile polymyoclonus, Inherited neuropathies, Joubert syndrome, Juvenile pilocytic astrocytoma, Kearns-Sayre Syndrome, Kuru, Lhermitte-McAlpine syndrome, Machado-Joseph Disease, Macrogyria, pseudobulbar palsy and mental retardation, Mann Syndrome, Marinesco-Sjogren-like syndrome (MSLS), Marinescu-Garland Syndrome, Medulloblastoma, Meinecke syndrome, Meningoencephalocele, Mental retardation progressive spasticity, X-linked, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, Metachromatic Leukodystrophy, Miller Fisher Syndrome, Mitochondrial encephalomyopathy, Mononeuropathy/radiculopathy affecting the lower extremities, Multiple sclerosis, Myelopathy, Myoclonus, Neuronal intranuclear hyaline inclusion disease, Normal pressure hydrocephalus, Olivopontocerebellar atrophy, Opsoclonus myoclonus syndrome, Parietal lobe lesion, Parkinson's disease, Partington X-linked mental retardation syndrome, Pelizaeus-Merzbacher disease, Peripheral neuropathy, Polyneuritis, Polyneuropathy, Post-infective polyradiculopathy, Posterior column ataxia with retinitis pigmentosa, Posterior fossa tumor, Progressive Multifocal Leukoencephalopathy, Reardon-Wilson-Cavanagh syndrome, Rett syndrome, Rhombencephalosynapsis, Roussy-Levy syndrome, Schroer-Hammer-Mauldin syndrome, Segawa syndrome, autosomal recessive, Shy-Drager syndrome, Spastic paraplegia, Spinal cord compression (and pressure on dorsal nerve roots), Spinal cord tumor, Spinocerebellar ataxia, Spinocerebellar degenerescence, book type, Stroke, Susac syndrome, Tabes dorsalis, Telencephalic leukoencephalopathy, Thalamic syndrome, Thoracic dysplasia -- hydrocephalus syndrome, Tranebjaerg-Svejgaard syndrome, Transient ischemic attack (TIA), Transverse myelitis, Vascular dementia, Vertebral Artery Dissection, Vertebrobasilar dolichoectasia, Vertigo, benign paroxysmal, Westphal's Disease, Wilson's Disease
Nutritional / Metabolic	Alcohol, Alpha-beta lipoproteinemia, GM2-gangliosidoses, Thiamine deficiency, Wilson's Disease,
Obstetric/Gynecologic	No underlying causes
Oncologic	Epiphyseal tumor, Paraneoplastic syndrome,
Opthalmologic	Combarros Calleja Leno syndrome, Corneal cerebellar syndrome, Fisher's Syndrome, Marinesco-Sjogren-like syndrome (MSLS), Posterior column ataxia with retinitis pigmentosa, Refsum Disease, Revesz Debuse syndrome, Schroer-Hammer-Mauldin syndrome, Susac syndrome, Treft-Sanborn-Carey syndrome
Overdose / Toxicity	Intoxication,
Psychiatric	No underlying causes
Pulmonary	No underlying causes
Renal / Electrolyte	No underlying causes
Rheum / Immune / Allergy	Fisher's Syndrome,
Sexual	No underlying causes
Trauma	Brainstem or cortical lesions, Frontal lobelesion, Mann Syndrome, Parietal lobelesion,
Urologic	No underlying causes
Miscellaneous	Mitochondrial cytopathy,

Causes by Alphabetical Order

2,4,6-Trichlorophenol Abetalipoproteinemia Acanthocytosis Aceruloplasminemia Acoustic neurinoma Acrylamide Acute altitude sickness Acute Disseminated Encephalomyelitis Adult-onset adreno leukodystrophy Aftershave Alcohol intoxication Alexander Syndrome Alpers Syndrome Alpha-ketoglutarate dehydrogenase deficiency Aminoaciduria Amiodarone Amitraz Amyloidosis, oculoleptomeningeal X-linked sideroblastic anaemia Angleman syndrome Aniline Antifreeze Apple seed poisoning Arachnoid Cysts Argininosuccinase lyase deficiency - late onset Arginosuccinate synthetase deficiency Arizona Bark Scorpion poisoning Arnold-Chiari Malformation Arteriosclerosis ARTS syndrome Ataxia deafness reardon type Ataxia tapetoretinal degeneration Ataxia telangiectasia / Louis-Bar syndrome Ataxia with Vitamin E Deficiency Ataxia-oculomotor apraxia syndrome Bangstad syndrome Barbituates Basal ganglia calcification Basilar artery migraine Basilar impression / vertebral-basilar artery ischemia Bassen-Kornzweig syndrome Benign Paroxysmal Positional Vertigo Benzene Benzodiazepines Bhaskar-Jagannathan syndrome Biotinidase deficiency Blue-ringed octopus poisoning Bonnemann-Meinecke-Reich syndrome Brain abscess Brain cancer Brain cyst Brain injury Brainstem or cortical lesions Bronchogenic carcinoma Buckeye poisoning Carbon monoxide poisoning Celiac disease Central nervous system lymphoma, primary Cerebellar abscess Cerebellar ataxia Cerebellar cortex atrophy Cerebellar degeneration Cerebellar haemorrhage Cerebellar heredoataxia Cerebellar hypoplasia Cerebellar infarct Cerebellar mass Cerebral Amyloid Angiopathy, Familial Cerebral hemorrhage Cerebral infarction Cerebral palsy Cerebrorenodigital syndrome

Cerebrovascular accident Ceroid lipofuscinosis Ceruloplasmin deficiency Cervical myelopathy Chickenpox Chitayat-Moore-Del Bigio syndrome Cholestanol storage disease Chorea familial benign Chronic progressive traumatic encephalopathy Cirrhosis Cockayne syndrome Coenzyme Q 10 (CoQ10), deficiency Combarros Calleja Leno syndrome Complex 2 mitochondrial respiratory chain deficiency Congenital Disorders of Glycosylation Corneal cerebellar syndrome Creutzfeldt-Jakob disease Cutler-Bass-Romshe syndrome Cystinuria -- lysinuria Dandy-Walker Syndrome DeSanctis-Cacchione syndrome Death Camas poisoning Dementia pugilis Demyelinating disorder Diabetic neuropathy Dinno-Shearer-Weisskopf syndrome Diphtheria Dravet syndrome Dykes-Markes-Harper syndrome Dysequilibrium syndrome Encephalitis Encephalocele frontal Encephalopathy due to sulphite oxidase deficiency English Ivy poisoning Epiphyseal tumor Episodic ataxia Erythrokeratodermia with ataxi Ethosuximide Fabry's Disease Familial isolated deficiency of vitamin E Familial periodic ataxia Feline spongiform encephalopathy Fisher's Syndrome Friedreich's ataxia Frontal lobe lesion Functioning pancreatic endocrine tumor Furukawa-Takagi-Nakao syndrome Gabapentin GALOP Syndrome (gait disorder, autoantibodies, late age onset, polyneuropathy) Gangliosidosis GM1 type 3 - gait ataxia Gasoline Gaucher disease type 2 Glioma Glutathione synthase deficiency Glycine encephalopathy, atypical mild form GM2-gangliosidoses Granulomatous Angiitis of the Central Nervous System Griscelli disease Guillain-Barré syndrome Hallervorden-Spatz disease Hartnup Disease Head trauma Heidenhain syndrome Hemangioblastoma Hepatocerebral degeneration Hereditary spastic paraparesis Hexosaminidase deficiency HIV infection Homozygous hypobetalipoproteinemia

Hydrocephalus Hydroxyacyl-coa dehydrogenase, type 2, deficiency Hyperammonemia Hypogonadism Hypothyroidism Hysteria Infantile polymyoclonus Infantile sialic acid storage disorder Inherited neuropathies Insulinoma Joubert syndrome Juvenile pilocytic astrocytoma Kearns-Sayre Syndrome Krabbe leukodystrophy Kuru Lactic acidosis congenital infantile Lamotrigine Lantana poisoning Lead Levetiracetam Lhermitte-McAlpine syndrome Lipoamide dehydrogenase deficiency Lithium toxicity Machado-Joseph Disease Macrocytic anemia Macrogyria, pseudobulbar palsy and mental retardation Mann Syndrome Maple syrup urine disease Marinesco-Sjogren-like syndrome (MSLS) Marinescu-Garland Syndrome Mayapple poisoning Measles Medulloblastoma Meinecke syndrome Meningoencephalocele Mental retardation progressive spasticity, X-linked Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Mercury Mescal poisoning Metachromatic Leukodystrophy Metastatic insulinoma Metronidazole Mevalonic aciduria Miller Fisher Syndrome Minamata disease Mistletoe poisoning Mitochondrial cytopathy Mitochondrial encephalomyopathy Mononeuropathy/radiculopathy affecting the lower extremities Morgagni's Syndrome Morphine Multiple sclerosis Myelopathy Myoclonus Myopathy Neuronal intranuclear hyaline inclusion disease Niemann-Pick disease Normal pressure hydrocephalus Olivopontocerebellar atrophy Opsoclonus myoclonus syndrome Oxcarbazepine Paraneoplastic syndromes Parietal lobe lesion Parkinson's disease Partington X-linked mental retardation syndrome Pelizaeus-Merzbacher disease Pellagra-like syndrome Peripheral neuropathy Pernicious anemia Phenytoin toxicity

Phosphoribosylpyrophosphate synthetase superactivity Polyneuritis Polyneuropathy Post-infective polyradiculopathy Posterior column ataxia with retinitis pigmentosa Posterior fossa tumor Primidone Progressive Multifocal Leukoencephalopathy Prolonged anoxia Purine nucleoside phosphorylase deficiency Pyruvate dehydrogenase deficiency Quaternary syphilis Ramsay-Hunt syndrome Reardon-Wilson-Cavanagh syndrome Refsum Disease Rett syndrome Revesz Debuse syndrome Rhombencephalosynapsis Richards-Rundle syndrome Roussy-Levy syndrome Rubinstein-Taybi syndrome Schroer-Hammer-Mauldin syndrome Segawa syndrome, autosomal recessive Selective vitamin E deficiency Shy-Drager syndrome Sialidosis type 1 and 3 Smallpox Spastic paraplegia Spinal cord compression (and pressure on dorsal nerve roots) Spinal cord tumor Spinocerebellar ataxia Spinocerebellar degenerescence, book type sporadic ataxia SSADH deficiency (succinic semialdehyde dehydrogenase deficiency) Stroke Susac syndrome Tabes dorsalis Telencephalic leukoencephalopathy Thalamic syndrome Thallium poisoning Thiamine deficiency Thoracic dysplasia -- hydrocephalus syndrome Tick paralysis Tolterodine toxicity Toxic mushrooms -- Anticholinergic Toxic mushrooms -- Monomethylhydrazine Toxic mushrooms -- Psychedelic Tranebjaerg-Svejgaard syndrome Transient ischemic attack (TIA) Transthyretin amyloidosis Transverse myelitis Treft-Sanborn-Carey syndrome Triglyceride storage disease with impaired long-chain fatty acid oxidation Varnish makers' and painters' Naptha Vascular dementia Vertebral Artery Dissection Vertebrobasilar dolichoectasia Vertigo, benign paroxysmal, in childhood - ataxic gait Vitamin B12 deficieny Wernicke-Korsakoff psychosis Westphal's Disease Wilson's Disease Xeroderma pigmentosum Xylene Zinc deficiency

Risk factors

Those who have a family history of inherited ataxia (e.g Friedreich's ataxia) may be at higher risk for developing ataxia. Genetic testing may be recommended in these cases.

Diagnosis

Symptoms

Symptoms may include:

• Inability to stand without swaying
• A uneven gait that may look like the person is drunk
• Involuntary shifting of the eyes (nystagmus)
• Unusual speech patterns such as:
  • Monotonous tone
  • Either rushing words or placing large gaps between syllables
• Impaired motions
• Tremors in the limbs, particularly towards the end of movements

A patient with ataxia may also experience other neurological symptoms such as dementia, seizures, or a wide array of other disorders.

Lab tests

Diagnostic evaluation of Ataxia include:

• Complete blood counts and differential count
• Cerebro spinal fluid examination for cell count, proteins and glucose levels - if fever is present
• Toxicology screening
• CT brain with and without contrast - for intracranial bleeding and lesions
• MRI brain - for masses
• Genetic testing

Treatment

There is no specific treatment for ataxia as such, altough there may be for the underlying cause. 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.

• Recovery tends to be better in individuals with a single focal injury (such as stroke or a benign tumour), compared to those who have a neurological degenerative condition.

• The movement disorders associated with ataxia can be managed by pharmacological treatments and through physical therapy and occupational therapy to reduce disability. Some drug treatments that have been used to control ataxia include: 5-hydroxytryptophan (5-HTP), idebenone, amantadine, physostigmine, L-carnitine or derivatives, trimethoprim–sulfamethoxazole, vigabatrin, phosphatidylcholine, acetazolamide, 4-aminopyridine, buspirone, and a combination of coenzyme Q10 and vitamin E.

• Physical therapy requires a focus on adapting activity and facilitating motor learning for retraining specific functional motor patterns. A recent systematic review suggested that physical therapy is effective, but there is only moderate evidence to support this conclusion. The most commonly used physical therapy interventions for cerebellar ataxia are vestibular habituation, proprioceptive neurofaciliation, Frenkel exercises, and balance training; however, therapy is often highly individualized and gait and coordination training are large components of therapy.

• Current research suggests that, if a person is able to walk with or without a mobility aid, physical therapy should include an exercise program addressing five components: static balance, dynamic balance, trunk-limb coordination, stairs, and contracture prevention. Once the physical therapist determines that the individual is able to safely perform parts of the program independently, it is important that the individual be prescribed and regularly engage in a supplementary home exercise program that incorporates these components to further improve long term outcomes. These outcomes include balance tasks, gait, and individual activities of daily living. While the improvements are attributed primarily to changes in the brain and not just the hip and/or ankle joints, it is still unknown whether the improvements are due to adaptations in the cerebellum or compensation by other areas of the brain.

• Decomposition, simplification, or slowing of multijoint movement may also be an effective strategy that therapists may use to improve function in patients with ataxia. Training likely needs to be intense and focused—as indicated by one study performed with stroke patients experiencing limb ataxia who underwent intensive upper limb retraining. Their therapy consisted of constraint-induced movement therapy which resulted in improvements of their arm function. Treatment should likely include strategies to manage difficulties with everyday activities such as walking. Gait aids (such as a cane or walker) can be provided to decrease the risk of falls associated with impairment of balance or poor coordination. Severe ataxia may eventually lead to the need for a wheelchair. In order to obtain better results, possible coexisting motor deficits need to be addressed in addition to those induced by ataxia. For example, muscle weakness and decreased endurance could lead to increasing fatigue and poorer movement patterns.

• There are several assessment tools available to therapists and health care professionals working with patients with ataxia. The International Cooperative Ataxia Rating Scale (ICARS) is one of the most widely used and has been proven to have very high reliability and validity. Other tools that assess motor function, balance and coordination are also highly valuable to help the therapist track the progress of their patient, as well as to quantify the patient's functionality. These tests include, but are not limited to:
  • The Berg Balance Scale
  • Tandem Walking (to test for Tandem gaitability)
  • Scale for the Assessment and Rating of Ataxia
  • tapping tests - The person must quickly and repeatedly tap their arm or leg while the therapist monitors the amount of dysdiadochokinesia.
  • finger-nose testing - This test has several variations including finger-to-therapist's finger, finger-to-finger, and alternate nose-to-finger.

References

de:Ataxie it:Atassia hu:Ataxia nl:Ataxie sr:Атаксија fi:Ataksia sv:Ataxi uk:Атаксія ur:لاتراتب

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