Ataxia, and Optic disc pallor

Diseases related with Ataxia and Optic disc pallor

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


Top matches:

Low match USHER SYNDROME, TYPE IIIB; USH3B


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

Low match SPINOCEREBELLAR ATAXIA 13; SCA13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match OPTIC ATROPHY 1; OPA1


Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match JOUBERT SYNDROME 8; JBTS8


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47


Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

Top 5 symptoms//phenotypes associated to Ataxia and Optic disc pallor

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Pallor Cerebellar atrophy Hearing impairment Horizontal nystagmus Poor speech Dysmetria Absent speech Hyperreflexia Limb ataxia Visual impairment Cognitive impairment Dysarthria Reduced visual acuity Gait ataxia Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Inability to walk Abnormality of extrapyramidal motor function Developmental regression Microcephaly Flexion contracture Difficulty walking Encephalopathy Abnormality of eye movement Feeding difficulties Oculomotor apraxia Visual loss Dystonia Abnormality of the eye Spastic paraplegia Paraplegia Abnormality of mitochondrial metabolism Epileptic encephalopathy Gait disturbance Central scotoma Nyctalopia Truncal ataxia Delayed gross motor development Optic neuropathy Photophobia Myopathy Motor delay Muscular hypotonia Postnatal microcephaly Progressive spastic paraplegia Multiple joint contractures Sensory axonal neuropathy Pes cavus Sensory neuropathy Distal amyotrophy Peripheral axonal neuropathy Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Increased serum lactate Hyperhidrosis Sensorimotor neuropathy Status epilepticus Hyporeflexia Kyphosis Distal lower limb amyotrophy Spastic tetraplegia Skeletal muscle atrophy Pain Scoliosis Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Leukoencephalopathy Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Motor axonal neuropathy Hepatomegaly Hyporeflexia of lower limbs Ventriculomegaly Hypohidrosis Focal-onset seizure Severe global developmental delay Cerebral visual impairment Muscular hypotonia of the trunk EEG abnormality Autism Abnormal autonomic nervous system physiology Arnold-Chiari type I malformation Dyschromatopsia Constipation Chronic constipation Multifocal epileptiform discharges Delayed speech and language development Exaggerated startle response Failure to thrive Spasticity Tetraplegia Undetectable electroretinogram Hyperventilation Occipital encephalocele Molar tooth sign on MRI Encephalocele Pigmentary retinopathy Jaundice Obesity Hypertonia Hypsarrhythmia Hyperreflexia proximally Leber optic atrophy Photoreceptor layer loss on macular OCT Progressive external ophthalmoplegia Clumsiness Dysdiadochokinesis Incoordination Apraxia Esotropia Brain atrophy Unsteady gait Neurological speech impairment Babinski sign Jerky ocular pursuit movements Limb dysmetria Titubation Morphological abnormality of the pyramidal tract Impaired vibratory sensation Cerebral palsy Progressive cerebellar ataxia Cerebellar vermis atrophy Progressive hearing impairment Intellectual disability, mild Generalized-onset seizure Rod-cone dystrophy Psychosis Broad-based gait Hallucinations Agitation Abnormal cerebellum morphology Vestibular dysfunction Visual hallucinations Inappropriate laughter Myoclonus Intellectual disability, moderate Abnormal pyramidal sign Gaze-evoked nystagmus Rotary nystagmus Severe vision loss Ophthalmoplegia Ring scotoma Strabismus Sensorineural hearing impairment Blindness Glaucoma Proximal muscle weakness Neurodegeneration Epiretinal membrane Muscle cramps Progressive visual loss External ophthalmoplegia Abnormality of color vision Visual field defect Scotoma Decreased serum iron Decreased mean corpuscular volume Functional motor deficit Abnormality of skin pigmentation Anemia Myopia Fever Edema Depressivity Arthritis Rheumatoid arthritis Elliptocytosis Retinal atrophy Anisocytosis Macular edema Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Poor head control



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