Nystagmus, and Cerebral cortical atrophy

Diseases related with Nystagmus and Cerebral cortical atrophy

In the following list you will find some of the most common rare diseases related to Nystagmus and Cerebral cortical atrophy that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION


Related symptoms:

  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION

Low match SPINOCEREBELLAR ATAXIA TYPE 2


Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Low match AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY


AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY Is also known as autosomal recessive spastic ataxia with leukoencephalopathy|spax3|autosomal recessive spastic ataxia type 3|arsal

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA WITH LEUKOENCEPHALOPATHY

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Other less relevant matches:

Low match FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES


FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES Is also known as fenib|encephalopathy, familial, with collins bodies

Related symptoms:

  • Seizures
  • Nystagmus
  • Dysarthria
  • Tremor
  • Dystonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL ENCEPHALOPATHY WITH NEUROSERPIN INCLUSION BODIES

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

Low match HUNTINGTON DISEASE-LIKE 1


HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

Low match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

Low match UROCANIC ACIDURIA


Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Low match NEUROECTODERMAL MELANOLYSOSOMAL DISEASE


Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Top 5 symptoms//phenotypes associated to Nystagmus and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Nystagmus and Cerebral cortical atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Seizures Cognitive impairment Tremor Intellectual disability Aggressive behavior Encephalopathy Dysmetria Hyperreflexia Hyperactive deep tendon reflexes Progressive cerebellar ataxia Depressivity

Rare Symptoms - Less than 30% cases


Restlessness Broad-based gait Hallucinations Difficulty walking Cerebellar hypoplasia Horizontal nystagmus Truncal ataxia Clumsiness Mild hearing impairment Frequent falls Subcortical cerebral atrophy Poor fine motor coordination Myoclonus Mental deterioration Unsteady gait Gliosis Generalized hypotonia Visual loss Behavioral abnormality Blindness Strabismus Spasticity Cerebral atrophy Slow saccadic eye movements Myopia Hearing impairment Anxiety Rigidity Chorea Abnormality of dental color Jerky head movements Abnormal head movements Abnormality of ocular smooth pursuit Microdontia Basal ganglia gliosis Jerky ocular pursuit movements Abnormality of higher mental function Abnormal saccadic eye movements Abnormality of the shoulder Cerebral cortical hemiatrophy Skeletal muscle atrophy Abnormality of the inner ear Sensorineural hearing impairment Simultanapraxia Hemianopia Iris hypopigmentation Cataract Scotoma Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Abnormal electroretinogram Rod-cone dystrophy Hypoplasia of the corpus callosum Schizophrenia Abnormality of dental enamel Nyctalopia Carious teeth Specific learning disability Supranuclear gaze palsy Babinski sign Urocanic aciduria Encephalitis Blue irides Fair hair Action tremor Gaze-evoked horizontal nystagmus Mood changes Abnormality of histidine metabolism Global developmental delay Macular dystrophy Muscular hypotonia Premature graying of hair Optic atrophy Hypertonia Recurrent respiratory infections Muscle stiffness Abnormality of movement Hypopigmentation of the skin Intellectual disability, progressive Aciduria Abnormal pyramidal sign Facial myokymia Peripheral axonal neuropathy Sensory axonal neuropathy Progressive spastic paraplegia Abnormality of the periventricular white matter Progressive gait ataxia Neurogenic bladder Progressive spastic quadriplegia Abnormality of the cerebellar vermis Abnormal posturing Generalized hyperpigmentation Abnormality of the optic nerve Progressive pes cavus Progressive extrapyramidal movement disorder EMG: axonal abnormality Short stature Intellectual disability, severe Hypopigmentation of hair Recurrent infections Mania Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Abnormality of the basal ganglia Intellectual disability, mild Abnormality of the spinocerebellar tracts Spinal cord posterior columns myelin loss Cerebellar Purkinje layer atrophy Abnormal cell morphology Scoliosis Peripheral neuropathy Bilateral sensorineural hearing impairment Olivopontocerebellar hypoplasia Leukoencephalopathy Urinary urgency Spastic dysarthria Spastic ataxia Pneumonia Distal sensory impairment Epileptic encephalopathy Abnormality of the substantia nigra Cerebral white matter atrophy Abnormality of extrapyramidal motor function Neurodevelopmental abnormality Febrile seizures Intention tremor Decreased liver function Delayed gross motor development Cerebellar vermis atrophy Abnormal corpus callosum morphology Infantile axial hypotonia Hyporeflexia Supranuclear ophthalmoplegia Muscle cramps Parkinsonism Fasciculations Postural tremor Ophthalmoparesis Abnormal cortical gyration Kinetic tremor Neuronal loss in central nervous system Status epilepticus Delusions Memory impairment Delayed speech and language development Gait disturbance Ventriculomegaly Weight loss EEG abnormality Abnormality of eye movement Bradykinesia Abnormal nervous system electrophysiology Involuntary movements Incoordination Slurred speech Personality changes Mask-like facies Global brain atrophy Hypokinesia Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Diplopia Developmental regression Aspiration Apathy Alzheimer disease Aspiration pneumonia Perseveration Eyelid myoclonus Visual impairment Retinal degeneration Increased neuronal autofluorescent lipopigment Inability to walk Nevus Progressive visual loss Dysdiadochokinesis Progressive encephalopathy Motor deterioration Intracellular accumulation of autofluorescent lipopigment storage material Aplasia/Hypoplasia of the macula



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