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Table 3 Frequency of additional clinical features in individuals with SCA29

From: Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

Clinical Feature

Frequency reported (percent)

Eyes

 Strabismus

5/21 (24%)

 Fixed mydriasis

1/21 (5%)

 Aniridia

1/21 (5%)

 Ptosis

1/21 (5%)

 Cortical visual impairment

1/21 (5%)

ENT

 Recurrent otitis media

1/21 (5%)

 Ankyloglossia

1/21 (5%)

Cardiac/Lung

 Pulmonic stenosis

1/21 (5%)

Abdominal

 Abdominal wall hernia

1/21 (5%)

 GERD

3/21 (14%)

Neurologic

 Seizuresa

2/21 (10%)

 Sleep issues

2/21 (10%)

 Stereotypies

1/21 (5%)

 Autism spectrum disorder

1/21 (5%)

 Post-natal microcephaly

1/21 (5%)

Others

 Cutaneous hemangioma

1/21 (5%)

 Failure to thrive

2/21 (10%)

 Urinary and fecal incontinence

1/21 (5%)

  1. aIncludes 1 patient with known GRIN2A mutation