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.

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