Visual impairment, and Gait ataxia

Diseases related with Visual impairment and Gait ataxia

In the following list you will find some of the most common rare diseases related to Visual impairment and Gait ataxia that can help you solving undiagnosed cases.


Top matches:

Low match LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA


Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA

Low match CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

Low match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Low match CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME


Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 3


3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.

3-METHYLGLUTACONIC ACIDURIA TYPE 3 Is also known as optic atrophy, infantile, with chorea and spastic paraplegia|mga3|iraqi-jewish 'optic atrophy plus'|opa3, autosomal recessive|costeff syndrome|autosomal recessive optic atrophy type 3|optic atrophy 3, autosomal recessive|optic atrophy plus syndrome|autoso

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 3

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Top 5 symptoms//phenotypes associated to Visual impairment and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Cerebellar atrophy Nystagmus Cognitive impairment Peripheral neuropathy Dysmetria Tremor Progressive cerebellar ataxia Global developmental delay Areflexia Reduced visual acuity Diplopia Intention tremor Strabismus Hyperreflexia Generalized hypotonia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Apraxia Hemiparesis Episodic ataxia Motor delay Cerebral visual impairment Paresthesia Autistic behavior Restlessness Drowsiness Pes cavus Narrow forehead Hyporeflexia Encephalopathy Progressive visual loss Unsteady gait Paraplegia Horizontal nystagmus Spastic paraplegia Incoordination Generalized-onset seizure Skeletal muscle atrophy Abnormal facial shape Wide nasal bridge Distal sensory impairment Intellectual disability, mild Babinski sign Scoliosis Photophobia Abnormal cerebellum morphology Muscle weakness Depressivity Progressive gait ataxia Ptosis Limb ataxia Hearing impairment Short stature Chorea Fever Cerebellar vermis atrophy Headache Blindness Vomiting Spastic paraparesis 3-Methylglutaconic aciduria Hypertelorism Episodic generalized hypotonia Moderate hearing impairment Anarthria Myopia Motor deterioration Low-set ears High palate Torticollis Progressive sensorineural hearing impairment Epileptic encephalopathy Dysphagia Dystonia Abnormality of the nervous system Abnormality of the eye Lethargy Abnormality of eye movement Postural instability Syndactyly Bradykinesia Tapered finger Truncal ataxia Small hand Toe syndactyly Cerebellar hypoplasia Clinodactyly Anteverted nares Foot dorsiflexor weakness Prominent forehead Hepatosplenomegaly Hepatomegaly Talipes equinovarus Splenomegaly Saccadic smooth pursuit Distal lower limb muscle weakness Acute hepatic failure Abnormality of the liver Brisk reflexes Distal muscle weakness Hepatic failure Sensory impairment Frequent falls Hepatic fibrosis Sensorimotor neuropathy Dysmetric saccades Infantile muscular hypotonia Osteoporosis Abnormality of movement Osteopenia EEG abnormality Choreoathetosis Abnormality of extrapyramidal motor function Aciduria Neutropenia Poor speech Generalized limb muscle atrophy Inability to walk Hip dysplasia Cardiomyopathy Status epilepticus Gait disturbance Stuttering Paraparesis Abolished vibration sense Sensorineural hearing impairment Intellectual disability, moderate Compensatory chin elevation Levator palpebrae superioris atrophy Superior rectus atrophy Sensory exotropia Secondary esotropia Edema Behavioral abnormality Developmental regression Congenital fibrosis of extraocular muscles Stroke Confusion Vertigo Nausea Coma Migraine Tinnitus Restrictive external ophthalmoplegia Congenital ptosis Loss of consciousness Abnormal chorioretinal morphology Abnormality of the cerebral white matter Leukoencephalopathy Schizophrenia CNS hypomyelination Visual field defect Abnormal retinal morphology Optic neuropathy Myopathy Abnormal cranial nerve morphology Blepharophimosis Ophthalmoplegia Astigmatism Esotropia Pigmentary retinopathy Amblyopia Exotropia Bilateral ptosis Hemiplegia Aphasia Spinocerebellar atrophy Distal amyotrophy Facial tics Abnormal morphology of the cerebellar cortex Abnormality of metabolism/homeostasis Visual loss Hypogonadism Delayed puberty Infertility Retinal dystrophy Facial myokymia Amenorrhea Primary amenorrhea Hypogonadotrophic hypogonadism Chorioretinal atrophy Scanning speech Abnormal upper motor neuron morphology Chorioretinal dystrophy Impaired distal tactile sensation Diffuse cerebellar atrophy Dysphasia Transient unilateral blurring of vision Blurred vision Severe hearing impairment Migraine with aura Phonophobia Borderline personality disorder Migraine without aura Personality disorder Sensory neuropathy Decreased number of large peripheral myelinated nerve fibers Urinary urgency Decreased number of peripheral myelinated nerve fibers Impaired pain sensation Episodic abdominal pain EMG: neuropathic changes Tics Areflexia of lower limbs Spastic dysarthria Dilated fourth ventricle



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