Cayman type cerebellar ataxia(ATCAY)

MedGen UID:: 331319
•Concept ID:: C1832585
•: Disease or Syndrome

Synonym:	Cayman ataxia
SNOMED CT:	Cerebellar ataxia Cayman type (717332007); Cayman ataxia (717332007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ATCAY (19p13.3)

Monarch Initiative:	MONDO:0011025
OMIM®:	601238
Orphanet:	ORPHA94122

Definition

Cayman cerebellar ataxia (ATCAY) is an autosomal recessive neurologic disorder characterized by hypotonia from birth, variable psychomotor retardation, and cerebellar dysfunction, including nystagmus, intention tremor, dysarthria, ataxic gait, and truncal ataxia. Although the disorder was initially believed to be restricted to an isolated region of Grand Cayman Island (summary by Nystuen et al., 1996; Bomar et al., 2003), one Pakistani family with the disorder and an ATCAY mutation has been reported, thus expanding the ethnic distribution (Manzoor et al., 2018). [from OMIM]

Clinical features

From HPO

Dysarthria

MedGen UID:: 8510
•Concept ID:: C0013362
•: Mental or Behavioral Dysfunction

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

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Cerebellar hypoplasia

MedGen UID:: 120578
•Concept ID:: C0266470
•: Congenital Abnormality

Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.

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Truncal ataxia

MedGen UID:: 96535
•Concept ID:: C0427190
•: Sign or Symptom

Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Gait ataxia

MedGen UID:: 155642
•Concept ID:: C0751837
•: Sign or Symptom

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.

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Broad-based gait

MedGen UID:: 167799
•Concept ID:: C0856863
•: Finding

An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.

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Intention tremor

MedGen UID:: 1642960
•Concept ID:: C4551520
•: Sign or Symptom

A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).

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Hypotonia

MedGen UID:: 10133
•Concept ID:: C0026827
•: Finding

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

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Nystagmus