Table 4.

Treatment of Manifestations in Individuals with Episodic Ataxia Type 1

Manifestation/
Concern		TreatmentConsiderations/Other
Typical attacks 1 Acetazolamide 2: 125 mg orally 1x/day starting dose; in those w/good renal function, ↑ daily doses may be required: 8-30 mg/kg/day in 1-4 divided doses (max dose: 1 g/day)Acetazolamide should not be prescribed to patients w/liver, renal, or adrenal insufficiency.
Phenytoin 3.7 mg/kg/day may improve muscle stiffness & motor performance. 3, 4In some cases, phenytoin but not acetazolamide has shown effectiveness for both ataxia & dyskinesia. 5, 6
Sulthiame 50-200 mg daily may ↓ attack rate.During this treatment abortive attacks lasting a few secs were still observed; troublesome side effects incl paresthesias & intermittent carpal spasm.
Carbamazepine has been prescribed in doses up to 1,600 mg/day. 7Significant ↓ in frequency, severity, & duration of symptoms observed 8
Lamotrigine has been proposed as an alternative treatment.Attacks ameliorated in some patients 9
Seizures Diphenylhydantoin 150-300 mg/dayResulted in reasonable control of seizures in some
Other anti-seizure meds may be required to control seizures in some. 10Consider referral to neurologist.
Scoliosis Routine treatment per orthopedist
1.

Several drugs variably improve EA1 symptoms, but with the lack of clinical trials comparing the efficacy of these drugs, no single medication has been proven to be very effective.

2.

Chronic treatment with acetazolamide may result in side effects including neuropsychiatric manifestations, tiredness, paresthesias, rash, and formation of renal calculi, necessitating discontinuation of therapy [Graves et al 2014, D'Adamo et al 2015a].

3.
4.

Phenytoin should be used with caution in young patients, as it may cause permanent cerebellar dysfunction and atrophy [De Marcos et al 2003].

5.
6.

Phenytoin is most often a second-line drug for typical attacks [McTague et al 2018].

7.

The dose needs to be adjusted according to factors including age, weight, the particular carbamazepine product being used, responsiveness of the individual, and other medications being taken.

8.
9.
10.

From: Episodic Ataxia Type 1

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