Ataxia, and Retinal dystrophy

Diseases related with Ataxia and Retinal dystrophy

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


Top matches:

Low 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

Low match ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME


Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).

ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME Is also known as boucher-neuhÄuser syndrome

Related symptoms:

  • Ataxia
  • Hypogonadotrophic hypogonadism
  • Chorioretinal dystrophy


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-HYPOGONADISM-CHOROIDAL DYSTROPHY SYNDROME

Low match JOUBERT SYNDROME 28; JBTS28


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 28; JBTS28

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Low match JOUBERT SYNDROME 33; JBTS33


Joubert syndrome represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015).For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 33; JBTS33

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 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

Low match ABETALIPOPROTEINEMIA; ABL


Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL ) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014).

ABETALIPOPROTEINEMIA; ABL Is also known as microsomal triglyceride transfer protein deficiency|acanthocytosis|bassen-kornzweig syndrome|mtp deficiency

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Rod-cone dystrophy
  • Abnormality of the liver
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA; ABL

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Low match FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY


Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Ataxia and Retinal dystrophy

Symptoms // Phenotype % cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Rare Symptoms - Less than 30% cases


Reduced visual acuity Nyctalopia Hallucinations Progressive hearing impairment Vestibular dysfunction Seizures Hearing impairment Malabsorption Hepatic steatosis Steatorrhea Acanthocytosis Fat malabsorption Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Peripheral neuropathy Abnormality of the eye Retinopathy Progressive visual loss Apraxia Oculomotor apraxia Visual loss Molar tooth sign on MRI Abnormality of eye movement Epileptic encephalopathy Elevated serum creatine phosphokinase Myopia Motor delay Delayed speech and language development Muscular hypotonia Muscle weakness Optic atrophy Strabismus Cerebellar atrophy CNS demyelination EEG abnormality Cholestatic liver disease Spinocerebellar tract degeneration Mental deterioration Generalized myoclonic seizures Abnormality of the coagulation cascade Peripheral demyelination Abnormality of the cerebral white matter Cerebellar vermis hypoplasia High myopia Failure to thrive Malnutrition Impaired vibratory sensation Failure to thrive in infancy Hypoalbuminemia Reduced tendon reflexes Decreased liver function Areflexia Diarrhea Vomiting Growth delay Abnormality of skin pigmentation Retinal thinning Cerebellar cyst Cerebellar dysplasia Dilated fourth ventricle Abnormally large globe Retinal atrophy Abnormality of the periventricular white matter Amblyopia Heterotopia Cirrhosis Abnormality of the liver Retinal degeneration Dystonia Horizontal nystagmus Truncal ataxia Broad-based gait Psychosis Optic disc pallor Pallor Photophobia Hypertonia Myopathy Agitation Encephalopathy Renal cyst Abnormality of the kidney Apnea Polydactyly Cognitive impairment Central hypotonia Status epilepticus Hypsarrhythmia Delayed gross motor development Visual hallucinations Hypogonadotrophic hypogonadism Scotoma Intellectual disability, profound Chorioretinal dystrophy Abnormal cochlea morphology Vestibular hypofunction Hemianopia Iris hypopigmentation Peripheral visual field loss High hypermetropia Visual field defect Inappropriate laughter Abnormal electroretinogram Schizophrenia Astigmatism Anxiety Hyporeflexia Depressivity Cataract Sensorineural hearing impairment Neoplasm Abnormality of blood and blood-forming tissues



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