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Diagnosis and Treatment of Progressive Ataxias Clinical

Practice Guidelines (2019)
Ataxia UK

This is a quick summary of the guidelines without analysis or commentary. For more information, go directly to the
guidelines by clicking the link in the reference.

March 26, 2019

Guidelines on the diagnosis and treatment of progressive ataxias were released in February 2019 by Ataxia UK.[1]

Diagnosis

Ataxia in adults can be caused by serious neurological disease. Offer urgent referral for secondary care (ie,
neurologist) following the primary care investigation.

Urgent pediatric assessment is recommended for children presenting with ataxic symptoms. The pediatric
assessment is usually performed by a local specialist, who may then cooperate with pediatric neurologists and
clinical geneticists, among others.

Rapid progression (eg, over weeks or months) may herald a prion disease, multisystem atrophy, or paraneoplastic
cause; urgent investigation is required.

Symptomatic Treatments

Spasticity

To determine the type of treatment for spasticity, a careful assessment by a neurologist in cooperation with advice
from a physiotherapist is required.

Physiotherapy should be considered first to treat spasticity. If physiotherapy does not provide complete results,
pharmacological treatment should be used. Consider surgery if neither physiotherapy nor pharmacological
treatments are successful.

The following oral medications should be considered for generalized spasticity, usually in the order given, owing to
adverse effect profile and tolerability: baclofen, tizanidine, gabapentin, clonazepam, dantrolene sodium, or
diazepam.

For focal spasticity, refer the patient to a specialized clinic for intramuscular botulinum toxin injections, with
physiotherapy to follow.

Tremor

The following medications (in order) should be offered as pharmacological treatment for patients who have ataxia
and tremors: propranolol, primidone, propranolol/primidone combination treatment, topiramate, clonazepam, or
gabapentin.

For extremely debilitating tremors nonresponsive to pharmacological treatment, consider referring patients to a
center that specializes in functional neurosurgery.

Dystonia
Treat focal dystonia with botulinum toxin injections.

Treat generalized dystonia with oral medications, with surgical treatment to follow if pharmacological treatment is
not effective.

Offer physiotherapy and oral medications to patients with dystonic tremor, to be followed by surgery if
physiotherapy and oral medications are not effective.

Scoliosis

It is recommended to conduct regular surveillance for the development of scoliosis in patients with Friedreich
ataxia. If it is detected, it is recommended that the patient be referred to a physiotherapist and spinal surgeon.

Patients with mild scoliosis should be closely observed; the spinal surgeon should consider treatment with bracing.

Patients with severe scoliosis should be considered for surgery to straighten the spine.

Pain

Physiotherapy and/or pharmacological treatments should be used to treat pain.

Drugs to consider for treatment of neuropathic pain include amitriptyline, nortriptyline, carbamazepine, pregabalin,
gabapentin, and duloxetine.

If pain is severe or is limiting daily activities, consider referral to a pain management clinic.

Cardiac involvement in Friedreich ataxia

Patients diagnosed with Friedreich ataxia should be referred to a cardiologist for early surveillance for cardiac
problems and complications.

These patients should receive regular screening by a cardiologist at intervals of once every 2 years before any
cardiac disease is documented and then at least annually if features of asymptomatic cardiac disease manifest.

Use transthoracic echocardiography and electrocardiography for diagnosing and monitoring myocardial changes.

Use Holter monitoring to detect silent cardiac arrhythmias or symptoms (eg, palpitations, dyspnea) associated with
the underlying rhythm.

Bladder problems (lower urinary tract dysfunction)

To exclude common causes of urgency and frequency, test for urinary tract infection and measure postvoid
residual. If results are within normal limits, investigate other common causes (eg, prostate enlargement).

Offer practical advice such as reducing intake of caffeine, carbonated beverages, and alcohol. Additionally, offer
information about timed voiding and bladder retraining if appropriate. Fluid intake should be individualized; 1-2
L/day is recommended, depending on possible concurrent cardiac issues.

Offer advice on pelvic floor exercises; these may be helpful if symptoms are mild.

In most individuals with overactive bladder, antimuscarinic medications such as tolterodine, oxybutynin,
propiverine, or solifenacin are required. Caution is advised when using antimuscarinic medications in patients with
cardiac complications and/or cognitive problems. Consider using more selectively acting antimuscarinic agents (eg,
trospium chloride, darifenacin) in patients with cognitive problems.

Gastroenterological problems

For patients with constipation, offer suggestions for lifestyle changes, such as diet, fluids, and mobility assistance.
Follow up with laxatives or suppositories as necessary.

If patients have urgency or fecal incontinence, consider referring them to a specialist for assessment.
Sexual dysfunction

Owing to the potential for erectile dysfunction, consider discussing sexual function with male patients.

If appropriate, erectile dysfunction can be treated with phosphodiesterase-5 inhibitors. Base treatment decisions on
patient needs and the potential adverse effects of the medications (eg, hypotension).

Exercise caution with medication selection in patients with cardiac pathology; cardiologist consultation is
recommended.

Swallowing, dysphagia, and sialorrhea (excessive salivation)

Referral to a speech and language therapist should be made if patients show symptoms of dysphagia.

If dysphagia is resulting in unintentional weight loss, consider nutritional supplementation and referral to a dietician.

Percutaneous gastronomy may be needed to provide reliable feeding if caloric intake cannot be maintained despite
supplements.

Sialorrhea is usually associated with dysphagia; speech and language therapist referral is recommended, as is
treatment for the sialorrhea and thick secretions.

Audiology and hearing issues

Refer patients experiencing hearing problems to an audiologist for full hearing tests.

If a patient has ataxia with auditory neuropathy spectrum disorder, a trial with a frequency modulation hearing
device is recommended.

Eye symptoms

If patients develop disabling nystagmus or oscillopsia, treatment is recommended (eg, with either gabapentin or
baclofen).

In patients with diplopia, referral to an optometrist or neuro-ophthalmologist is recommended for restoration of

single vision with prisms.

Visual impairment in ataxia patients warrants correction with low-vision aids and possible official registration of
visual disability.

Inherited episodic ataxias

Patients with episodic ataxia should be advised on identifying potential attack triggers and avoiding them. Such
triggers may include stress, caffeine and alcohol consumption, and excessive physical exertion.

For episodic ataxia types 1 and 2, the first-line recommended drug is acetazolamide (not all patients respond).

Patients taking acetazolamide should be advised to stay well-hydrated to prevent renal calculi formation; periodic
screening of the urinary tract with ultrasonography is warranted.

If the patient has a known hypersensitivity to sulfonamides, keep him or her under surveillance during treatment.

If acetazolamide is not beneficial for episodic ataxia type 2, consider using 4-aminopyridine on a named-patient
basis as a second-line option.

Carbamazepine, phenytoin, or lamotrigine can be considered as second-line options in episodic ataxia type 1.

Treatable Ataxias

Gluten ataxia: Patients with idiopathic cerebellar ataxia should be tested for gluten sensitivity. If possible, consider
testing for antibodies against TG6, which can be a more sensitive test for gluten ataxia. In ataxia patients with or
without enteropathy who have serological evidence of gluten sensitivity, a gluten-free diet should be started
immediately. These patients should be given dietetic advice and should be advised about strict adherence to the
diet. Close monitoring is recommended; testing should be performed at 6-month intervals to ensure antigliadin
antibodies are eliminated.

Ataxia with vitamin E deficiency: In ataxia with vitamin E deficiency or abetalipoproteinemia, treat with vitamin E
supplementation.

Ataxia with vitamin B-12 deficiency: Treat with vitamin B-12 supplementation.

Ataxia with coenzyme Q10 (ubiquinone) deficiency: Treat with coenzyme Q10 supplementation. If patients are
diagnosed with ataxia with oculomotor apraxia type 1, also consider treatment with coenzyme Q10
supplementation.

Cerebrotendinous xanthomatosis: Prompt diagnosis is advised in order to initiate treatment; treatment with
chenodeoxycholic acid is recommended.

Niemann-Pick disease type C: If the results of clinical investigations suggest Niemann-Pick disease type C,
perform diagnostic tests as outlined in these guidelines. Because this is a treatable condition, early diagnosis is
important. If Niemann-Pick disease type C is diagnosed, promptly refer patients to a specialist for treatment and
management. The recommended treatment in both adult and pediatric patients is miglustat, which is available at
specialist centers.

Treatable Ataxias in Children

Glucose transporter 1 deficiency: Treat with a ketogenic diet.

Hypobetalipoproteinemia: The moderate form can be treated by reducing the proportion of fat in the patient's diet
and with vitamin E supplementation.

Hartnup disease: Consider treatment with nicotinamide or with a tryptophan-rich diet. Advise patients on a high-
protein diet, sunlight protection, and avoiding photosensitizing drugs.

Biotinidase deficiency: Treat with biotin.

Pyruvate deficiency: Consider thiamine, carnitine, or lipoic acid, and advise a ketogenic diet.

Structural disorders: If ataxia is attributable to structural causes, referral for neurosurgical treatment can be
recommended.

For more information, please go to Friedreich Ataxia.

For more Clinical Practice Guidelines, please go to Guidelines.

References

1. de Silva R, Greenfield J, Cook A, Bonney H, Vallortigara J, Hunt B, Giunti P. Guidelines on the diagnosis
and management of the progressive ataxias. Orphanet J Rare Dis. 2019 Feb 20;14(1):51. Available at:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381619/.

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Cite this: Diagnosis and Treatment of Progressive Ataxias Clinical Practice Guidelines
(2019) - Medscape - Mar 26, 2019.