Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Also known as: Poretti-Boltshauser syndrome

Definition

Orphanet

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

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Symptoms

Medical Term Other Names Description
Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Cerebellar dysplasia The presence of developmental dysplasia of the cerebellum.
Nonprogressive cerebellar ataxia
Amblyopia Lazy eye, Wandering eye Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Oculomotor apraxia Ocular motor apraxia, Defective or absent horizontal voluntary eye movements Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Retinal dystrophy Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Cerebellar vermis hypoplasia Cerebellar vermal hypoplasia, Hypoplasia of the cerebellar vermis, Hypoplastic cerebellar vermis [more] Underdevelopment of the vermis of cerebellum.
Cerebellar cyst Cerebellar cysts
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Myopia Near sightedness, Close sighted, Nearsightedness, Near sighted [more] An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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