Ataxia, and Visual impairment

Diseases related with Ataxia and Visual impairment

In the following list you will find some of the most common rare diseases related to Ataxia and Visual impairment 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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45

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

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Other less relevant matches:

Low match EPISODIC ATAXIA TYPE 6


Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

Related symptoms:

  • Seizures
  • Ataxia
  • Cerebellar atrophy
  • Headache
  • Reduced visual acuity


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 6

Low match COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

Low 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

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 GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME


Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Low match MEPAN SYNDROME


Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Visual impairment

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Nystagmus Progressive visual loss

Rare Symptoms - Less than 30% cases


Myoclonus Tremor Dysmetria Gaze-evoked nystagmus Dystonia Optic neuropathy Pallor Intellectual disability, mild Peripheral neuropathy Photophobia Cerebellar atrophy Retinal dystrophy Hypsarrhythmia Epileptic encephalopathy Developmental regression Encephalopathy Dysphagia Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Abnormal nervous system electrophysiology Dyskinesia Chorea Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Motor deterioration Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Anemia Involuntary movements Nevus Retinal degeneration Growth delay Intrauterine growth retardation Abnormality of eye movement Abnormality of the eye Hyperreflexia Motor delay Difficulty walking Hyperactive patellar reflex Spasticity Abnormality of the mitochondrion Difficulty running Delayed speech and language development Macrocytic anemia Increased serum lactate Lactic acidosis Acidosis Skeletal muscle atrophy Gait disturbance Dementia Attention deficit hyperactivity disorder Absent Achilles reflex Intellectual disability, profound Headache Central scotoma Optic disc pallor Generalized-onset seizure Central hypotonia Status epilepticus Hypertonia Vertigo Cerebral visual impairment Hypoplasia of the corpus callosum Generalized myoclonic seizures Mental deterioration EEG abnormality Visual loss Nausea and vomiting Migraine Abnormality of mitochondrial metabolism Optic nerve hypoplasia Dysdiadochokinesis Abnormality of the nervous system Glaucoma Babinski sign Esophoria Emotional lability Amblyopia Diplopia Broad-based gait Hyperactivity Cognitive impairment Phonophobia Hemiplegia Slurred speech Craniofacial dystonia



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