Ataxia, and Progressive visual loss

Diseases related with Ataxia and Progressive visual loss

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


Top matches:

Medium match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Medium match EARLY-ONSET X-LINKED OPTIC ATROPHY


Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Medium match CLN6 DISEASE


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 lipopigment patterns observed most often in CLN6 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CLN6 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 6, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Dementia
  • Myoclonus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CLN6 DISEASE

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Other less relevant matches:

Medium match USHER SYNDROME TYPE 3


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 phenotypic heterogeneity of Usher syndrome, see USH1 (OMIM ). Genetic Heterogeneity of Usher syndrome Type IIIUsher syndrome type IIIB (OMIM ) is caused by mutation in the HARS gene (OMIM ) on chromosome 5q31.3.

USHER SYNDROME TYPE 3 Is also known as ush3|usher syndrome, type iii

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 3

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 CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8


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 lipopigment patterns observed most often in CLN8 comprise mixed combinations 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
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8

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 CLN5 DISEASE


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 lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CLN5 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 5, variable age at onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CLN5 DISEASE

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Ataxia and Progressive visual loss

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Progressive visual loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Developmental regression Nevus Motor deterioration Reduced visual acuity Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Myoclonus Dysarthria Blindness Cerebellar atrophy Abnormal nervous system electrophysiology Dementia Abnormality of the eye Encephalopathy Retinal degeneration Sensorineural hearing impairment Hearing impairment Cognitive impairment Peripheral neuropathy Mental deterioration Intellectual disability Tremor

Rare Symptoms - Less than 30% cases


Truncal ataxia Abnormal electroretinogram Visual field defect Scotoma Hyperreflexia Strabismus Retinal dystrophy Delayed speech and language development Paraplegia Cerebral atrophy Clumsiness Areflexia Neurodegeneration EEG abnormality Gait ataxia Nystagmus Spastic paraplegia Unsteady gait Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Dysmetria Rod-cone dystrophy Optic neuropathy Hyporeflexia Horizontal nystagmus Abnormality of mitochondrial metabolism Dysdiadochokinesis Pallor Abnormality of the nervous system Glaucoma Photophobia Hypogonadism Abnormal amplitude of pattern reversal visual evoked potentials Abnormality of metabolism/homeostasis Infertility Inability to walk Skeletal muscle atrophy Spasticity Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Behavioral abnormality Cerebral cortical atrophy Progressive encephalopathy Temporal optic disc pallor Delayed puberty Autistic behavior Distal amyotrophy Lethargy Moderate hearing impairment Anarthria Episodic ataxia Drowsiness Progressive sensorineural hearing impairment Incoordination Torticollis Limb ataxia Hemiparesis Bradykinesia Postural instability Abnormality of eye movement Tritanomaly Amenorrhea Pes cavus Dystonia Dysphagia Muscle weakness Generalized hypotonia Spinocerebellar atrophy Chorioretinal dystrophy Abnormal upper motor neuron morphology Scanning speech Chorioretinal atrophy Hypogonadotrophic hypogonadism Primary amenorrhea Intention tremor Centrocecal scotoma Generalized tonic-clonic seizures Red-green dyschromatopsia Schizophrenia Neuronal loss in central nervous system Retinal detachment Retinopathy Abnormal cochlea morphology Vestibular hypofunction Hemianopia Iris hypopigmentation Peripheral visual field loss High hypermetropia Vestibular dysfunction Progressive hearing impairment Atonic seizures Hallucinations Astigmatism Nyctalopia Anxiety Depressivity Cataract Neoplasm Hyperactive patellar reflex Absent Achilles reflex Babinski sign Generalized myoclonic seizures Tetraparesis Undetectable electroretinogram Leber optic atrophy Myopathy Dyschromatopsia Progressive external ophthalmoplegia Severe vision loss Central scotoma Abnormality of color vision External ophthalmoplegia Optic disc pallor Muscle cramps Ophthalmoplegia Proximal muscle weakness Vacuolated lymphocytes Retinal thinning Restlessness Hyperactive deep tendon reflexes Focal impaired awareness seizure Broad-based gait Psychosis Neurological speech impairment Irritability Autism Global developmental delay Increased extraneuronal autofluorescent lipopigment Mitochondrial encephalopathy Episodic generalized hypotonia



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