Ataxia, and Strabismus

Diseases related with Ataxia and Strabismus

In the following list you will find some of the most common rare diseases related to Ataxia and Strabismus that can help you solving undiagnosed cases.

Top matches:

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Other less relevant matches:

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Top 5 symptoms//phenotypes associated to Ataxia and Strabismus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Ataxia and Strabismus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Truncal ataxia Tremor Cerebellar hypoplasia Intention tremor Hyperreflexia Seizures Abnormality of eye movement Dysmetria Motor delay

Rare Symptoms - Less than 30% cases

Abnormality of the eye Incoordination Esotropia Short stature Absent speech Gait ataxia Delayed speech and language development Broad-based gait Nonprogressive cerebellar ataxia Dysdiadochokinesis Frequent falls Babinski sign Microcephaly Intellectual disability, mild Oculomotor apraxia Slurred speech Athetosis Epileptic encephalopathy Progressive cerebellar ataxia Status epilepticus Flexion contracture Limb hypertonia Spasticity Sideroblastic anemia Hypochromic microcytic anemia Hyperactive deep tendon reflexes Microcytic anemia Cerebellar atrophy Sensory impairment Generalized myoclonic seizures Jerky ocular pursuit movements Cortical gyral simplification Clonus Sloping forehead Prominent nose Cleft lip Hypertonia Dysmetric saccades Lobar holoprosencephaly Hypometric saccades EEG abnormality Progressive gait ataxia Horizontal nystagmus Diplopia Abnormality of extrapyramidal motor function Holoprosencephaly Autism Abnormality of movement Generalized neonatal hypotonia Growth delay Congenital hip dislocation Oligodontia Falls Ventriculomegaly Hypoplasia of the corpus callosum Molar tooth sign on MRI Neonatal hypotonia Unsteady gait Cerebellar vermis hypoplasia Clumsiness Action tremor Spastic dysarthria Saccadic smooth pursuit Hyperactivity Neurological speech impairment Poor coordination Abnormality of metabolism/homeostasis Intrauterine growth retardation Anemia Muscular hypotonia Scoliosis Pontocerebellar atrophy Apraxia Attention deficit hyperactivity disorder Autistic behavior Esophoria Gaze-evoked nystagmus Emotional lability Optic nerve hypoplasia Amblyopia Alternating esotropia


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