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Autosomal recessive spinocerebellar ataxia 11(SCAR11)

MedGen UID:: 1681191
•Concept ID:: C5190803
•: Disease or Syndrome

Synonyms:	SCAR11; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
SNOMED CT:	Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (783060009); Autosomal recessive spinocerebellar ataxia type 11 (783060009)
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.	SYT14 (1q32.2)

Monarch Initiative:	MONDO:0013645
OMIM®:	614229
Orphanet:	ORPHA284271

Definition

A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. [from SNOMEDCT_US]

Clinical features

From HPO

Dysphagia

MedGen UID:: 41440
•Concept ID:: C0011168
•: Disease or Syndrome

Difficulty in swallowing.

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Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

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- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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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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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 disturbance

MedGen UID:: 107895
•Concept ID:: C0575081
•: Finding

The term gait disturbance can refer to any disruption of the ability to walk.

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Cerebellar atrophy

MedGen UID:: 196624
•Concept ID:: C0740279
•: Disease or Syndrome

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.

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Cerebellar vermis atrophy

MedGen UID:: 149271
•Concept ID:: C0742028
•: Disease or Syndrome

Wasting (atrophy) of the vermis of cerebellum.

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Limb ataxia

MedGen UID:: 196692
•Concept ID:: C0750937
•: Finding

A kind of ataxia that affects movements of the extremities.

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Impaired smooth pursuit

MedGen UID:: 325176
•Concept ID:: C1837458
•: Finding

An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

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Gaze-evoked horizontal nystagmus