Visual impairment, and Progressive cerebellar ataxia

Diseases related with Visual impairment and Progressive cerebellar ataxia

In the following list you will find some of the most common rare diseases related to Visual impairment and Progressive cerebellar ataxia that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom|feom1 locus|ophthalmoplegia, congenital|blepharoptosis with absent eye movements

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match SPINOCEREBELLAR ATAXIA 7; SCA7


Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

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Other less relevant matches:

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Low match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Low match AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME


AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME Is also known as scabd|scar3|autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|autosomal recessive spinocerebellar ataxia type 3|spinocerebellar ataxia with blindness and deafness

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Optic atrophy
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME

Low match INFANTILE NEUROAXONAL DYSTROPHY


Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Low match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Low match PEROXISOME BIOGENESIS DISORDER 6B; PBD6B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6B; PBD6B

Low match SPINOCEREBELLAR ATAXIA 6; SCA6


Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 6; SCA6

Top 5 symptoms//phenotypes associated to Visual impairment and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Gait ataxia Very Common - Between 80% and 100% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Visual impairment and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Optic atrophy Generalized hypotonia Global developmental delay Tremor Dysmetria Areflexia Peripheral neuropathy Intellectual disability Dysphagia Blindness Strabismus Ptosis Chorea Neuronal loss in central nervous system Hyporeflexia Ophthalmoplegia Sensory neuropathy Reduced visual acuity Pes cavus Babinski sign Intention tremor Distal sensory impairment Hearing impairment Impaired smooth pursuit

Rare Symptoms - Less than 30% cases


Rod-cone dystrophy Ophthalmoparesis Mental deterioration Neurodegeneration Retinopathy Limb ataxia Gaze-evoked nystagmus Decreased liver function Retinal degeneration Falls Unsteady gait Abnormality of extrapyramidal motor function External ophthalmoplegia Incoordination Head tremor Slow saccadic eye movements Sensorimotor neuropathy Spinocerebellar atrophy Motor delay Abnormality of eye movement Abnormality of the liver Oculomotor apraxia Sensorineural hearing impairment Delayed speech and language development Seizures Dysmetric saccades Abnormal cerebellum morphology Cerebellar vermis atrophy Retinal dystrophy Neonatal hypotonia Gait disturbance Sensory impairment Progressive gait ataxia Scoliosis Spastic dysarthria Diplopia Hyperreflexia Pigmentary retinopathy Talipes calcaneovalgus Short attention span Bilateral ptosis Lewy bodies Neurofibrillary tangles Bradykinesia Alzheimer disease Toe walking Emotional lability Impulsivity Dysdiadochokinesis Cachexia Tetraparesis Global brain atrophy Visual loss Brain atrophy Hypertonia Proximal amyotrophy Conjunctival telangiectasia Elevated alpha-fetoprotein Cochlear degeneration Muscular hypotonia Feeding difficulties Dystonia Gliosis Cerebral atrophy Hyperactivity Muscular hypotonia of the trunk Developmental regression Congenital fibrosis of extraocular muscles Congenital ptosis Abnormal cranial nerve morphology Aceruloplasminemia Amblyopia Exotropia Vertigo Delayed menarche Focal white matter lesions Hypogonadism Diabetes mellitus Cerebral cortical atrophy Nyctalopia Postural instability Distal amyotrophy Parkinsonism Migraine Slurred speech Subarachnoid hemorrhage Vertical nystagmus Cerebellar cortical atrophy Abnormal vestibulo-ocular reflex Myopathy Peripheral axonal neuropathy Pneumonia Broad-based gait Mildly elevated creatine phosphokinase Joint laxity Esotropia Polyneuropathy Astigmatism Apraxia Blepharophimosis Abnormality of the cerebral white matter Depressivity Difficulty running Bronchiolitis Very long chain fatty acid accumulation Elevated levels of phytanic acid Elevated hepatic transaminase Abnormality of the nervous system Impaired vibration sensation in the lower limbs Compensatory chin elevation Restrictive external ophthalmoplegia EMG: neuropathic changes Tics Spinocerebellar tract degeneration Olivopontocerebellar atrophy Orofacial dyskinesia Limb tremor Supranuclear ophthalmoplegia Muscle weakness Bipolar affective disorder Episodic abdominal pain Hepatomegaly Fever Skeletal muscle atrophy Talipes equinovarus Intellectual disability, mild Splenomegaly Areflexia of lower limbs Macular dystrophy Hepatosplenomegaly Dyskinesia Failure to thrive Abnormal pyramidal sign Spastic paraplegia Paraplegia Abnormal morphology of the cerebellar cortex Facial tics Abolished vibration sense Blurred vision Progressive visual loss Impaired distal tactile sensation Facial myokymia Macular degeneration Diffuse cerebellar atrophy Schizophrenia Decreased number of large peripheral myelinated nerve fibers Impaired pain sensation Decreased number of peripheral myelinated nerve fibers Difficulty walking Toe syndactyly High palate Levator palpebrae superioris atrophy Wide nasal bridge Syndactyly Encephalopathy Clinodactyly Small hand Low-set ears Tapered finger Epileptic encephalopathy Generalized-onset seizure Narrow forehead Cerebral visual impairment Dilated fourth ventricle Dementia Cognitive impairment Abnormal facial shape Distal muscle weakness Foot dorsiflexor weakness Paresthesia Hepatic failure Urinary urgency Vomiting Frequent falls Hepatic fibrosis Secondary esotropia Short stature Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Sensory exotropia Generalized limb muscle atrophy Stuttering Superior rectus atrophy Square-wave jerks



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