Ataxia, and Blindness

Diseases related with Ataxia and Blindness

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


Top matches:

Medium match FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

Medium match LAFORA DISEASE


Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LAFORA DISEASE

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2


IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

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Other less relevant matches:

Medium match JOUBERT SYNDROME 5; JBTS5


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 5; JBTS5

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A


Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011).In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Blindness
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Medium 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

Medium 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

Medium match LISSENCEPHALY 3; LIS3


Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Medium match JOUBERT SYNDROME 6; JBTS6


Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

Top 5 symptoms//phenotypes associated to Ataxia and Blindness

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Apraxia Visual loss Depressivity Behavioral abnormality Mental deterioration Confusion Neurodegeneration Hemiparesis Visual impairment Delayed speech and language development Cerebellar vermis hypoplasia Headache Retinal degeneration Nystagmus Dementia

Rare Symptoms - Less than 30% cases


Dystonia Absent speech Encephalopathy Progressive visual loss Feeding difficulties Microcephaly Intellectual disability, moderate Optic atrophy Developmental regression Motor delay Nevus Intracellular accumulation of autofluorescent lipopigment storage material Nephronophthisis Molar tooth sign on MRI Oculomotor apraxia Increased neuronal autofluorescent lipopigment Stage 5 chronic kidney disease Thickened superior cerebellar peduncle Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Rod-cone dystrophy Muscular hypotonia Congenital microcephaly Intellectual disability, severe Cerebral visual impairment Intellectual disability, mild Vegetative state Visual hallucinations Generalized tonic-clonic seizures Sensorineural hearing impairment Vomiting Photophobia EEG abnormality Nausea Migraine Hemiplegia Abnormality of the eye Dysphasia Migraine with aura Phonophobia Dysarthria Difficulty walking Cerebral atrophy Inability to walk Strabismus Hearing impairment Focal-onset seizure Abnormality of mitochondrial metabolism Temporal optic disc pallor Edema Paresthesia Progressive external ophthalmoplegia Vertigo Abnormality of color vision Abnormal cerebellum morphology Intention tremor Tremor Diplopia Fever Coma Visual field defect Centrocecal scotoma Tritanomaly Scotoma Red-green dyschromatopsia Gait ataxia Dysmetria Leber optic atrophy Abnormal amplitude of pattern reversal visual evoked potentials Stroke Central scotoma Severe vision loss Autistic behavior Dyschromatopsia Optic neuropathy Hypertonia Tinnitus Agyria Heterotopia Lissencephaly Hypoplasia of the brainstem Abnormality of neuronal migration Cortical dysplasia Cerebellar dysplasia Hemianopia Esodeviation Coloboma Intellectual disability, profound Abnormality of eye movement Hepatic fibrosis Severe muscular hypotonia Chorioretinal coloboma Abnormal retinal morphology Breathing dysregulation Bile duct proliferation Hyperechogenic kidneys Elongated superior cerebellar peduncle Pachygyria Spastic tetraplegia Loss of consciousness Personality disorder Aphasia Blurred vision Severe hearing impairment Restlessness Drowsiness Episodic ataxia Borderline personality disorder Migraine without aura Transient unilateral blurring of vision Tetraplegia Ventriculomegaly Hypoplasia of the corpus callosum Horizontal nystagmus Dilatation Cerebellar hypoplasia Agenesis of corpus callosum Muscular hypotonia of the trunk Abnormal pyramidal sign Polymicrogyria External ophthalmoplegia Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Optic disc pallor Epileptic encephalopathy Visual auras Simple partial occipital seizures Spasticity Lethargy Abnormality of the cerebral white matter Dyskinesia Febrile seizures Hypsarrhythmia Giant somatosensory evoked potentials Postnatal microcephaly Brisk reflexes Limb myoclonus Abnormality of the kidney Retinal dystrophy Renal cyst Congenital blindness Lafora bodies Generalized tonic-clonic seizures with focal onset Central apnea Abnormality of metabolism/homeostasis Neurological speech impairment Abnormality of movement Pigmentary retinopathy Abnormality of retinal pigmentation Hemiplegia/hemiparesis Cognitive impairment Gait disturbance Hepatic failure Hyperkinesis Generalized myoclonic seizures Generalized-onset seizure Psychosis Cutaneous photosensitivity Progressive neurologic deterioration Hallucinations Absence seizures Retinal coloboma Agenesis of cerebellar vermis Muscle cramps Hyperreflexia Undetectable electroretinogram Motor deterioration Retinal thinning Mitochondrial encephalopathy Abnormal nervous system electrophysiology Increased extraneuronal autofluorescent lipopigment Peripheral neuropathy Myopathy Abnormal electroretinogram Glaucoma Reduced visual acuity Proximal muscle weakness Pallor Spastic paraplegia Ophthalmoplegia Paraplegia Atonic seizures Tetraparesis Tapetoretinal degeneration Bradykinesia Renal cortical cysts Aplasia/Hypoplasia of the cerebellar vermis Episodic tachypnea Impaired renal concentrating ability Neonatal breathing dysregulation Cerebellar atrophy Ichthyosis Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Leukoencephalopathy Athetosis Auditory hallucinations Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Granular osmiophilic deposits (GROD) in cells Retinopathy Retinal detachment Enlarged fossa interpeduncularis



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