Ataxia, and Retinal degeneration

Diseases related with Ataxia and Retinal degeneration

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


Top matches:

Low 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

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

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Other less relevant matches:

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 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B


Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

Low 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

Low 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

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY Is also known as scar12|autosomal recessive spinocerebellar ataxia type 12|spinocerebellar ataxia with mental retardation and epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO WWOX DEFICIENCY

Low 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

Low 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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Myoclonus 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 Retinal degeneration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased neuronal autofluorescent lipopigment Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Intracellular accumulation of autofluorescent lipopigment storage material Nevus Blindness Behavioral abnormality Mental deterioration Cerebellar atrophy Dysarthria Depressivity Global developmental delay Motor delay Delayed speech and language development Nystagmus Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Abnormal nervous system electrophysiology Progressive visual loss Visual impairment Motor deterioration Developmental regression

Rare Symptoms - Less than 30% cases


Tremor Cerebral cortical atrophy Hearing impairment Apraxia Abnormality of eye movement Cerebellar vermis hypoplasia Myopia Auditory hallucinations Oculomotor apraxia Visual loss Retinal atrophy Retinal thinning Gait ataxia Muscular hypotonia Retinopathy Optic atrophy Abnormality of skin pigmentation Generalized hypotonia Generalized tonic-clonic seizures Rod-cone dystrophy Cerebral atrophy Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Visual hallucinations Granular osmiophilic deposits (GROD) in cells Encephalopathy Retinal detachment Neurodegeneration Tetraparesis Abnormal electroretinogram Unsteady gait Vegetative state Athetosis Dysdiadochokinesis Undetectable electroretinogram Leukoencephalopathy Bradykinesia Ichthyosis Confusion Dystonia Atonic seizures Babinski sign Mitochondrial encephalopathy Severe muscular hypotonia Hyperreflexia Cognitive impairment Thickened superior cerebellar peduncle Enlarged fossa interpeduncularis Elongated superior cerebellar peduncle Hyperechogenic kidneys Bile duct proliferation Breathing dysregulation Abnormal retinal morphology Nephronophthisis Inability to walk Molar tooth sign on MRI Chorioretinal coloboma Clumsiness Hepatic fibrosis Increased extraneuronal autofluorescent lipopigment Stage 5 chronic kidney disease Coloboma Abnormality of the eye Intellectual disability, severe Urinary bladder sphincter dysfunction Gaze-evoked nystagmus Limb ataxia Generalized-onset seizure Truncal ataxia Dysmetria Hyporeflexia Spasticity Growth delay Microcephaly Intellectual disability, moderate Photoreceptor layer loss on macular OCT Stooped posture Hypocholesterolemia Abnormally large globe Abnormality of the periventricular white matter Amblyopia Heterotopia High myopia Retinal dystrophy Abnormality of the cerebral white matter Elevated serum creatine phosphokinase Muscle weakness Strabismus Abetalipoproteinemia Decreased LDL cholesterol concentration CNS demyelination Cerebellar dysplasia Fat malabsorption Cholestatic liver disease Spinocerebellar tract degeneration Acanthocytosis Steatorrhea Abnormality of the coagulation cascade Peripheral demyelination Hepatic steatosis Cirrhosis Malabsorption Abnormality of the liver Peripheral neuropathy Dilated fourth ventricle Cerebellar cyst Astrocytoma Decreased mean corpuscular volume Tics Involuntary movements Memory impairment Parkinsonism Abnormal cerebellum morphology Dyskinesia Poor speech Irritability Rigidity Ring scotoma Decreased serum iron Epiretinal membrane Elliptocytosis Anemia Retinal pigment epithelial atrophy Poikilocytosis Juvenile rheumatoid arthritis Macular edema Anisocytosis Rheumatoid arthritis Optic disc pallor Nyctalopia Pallor Arthritis Edema Fever Progressive encephalopathy



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