Ataxia, and Photophobia

Diseases related with Ataxia and Photophobia

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


Top matches:

Medium 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

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match EPISODIC ATAXIA, TYPE 6; EA6


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

Medium match BOUCHER-NEUHAUSER SYNDROME; BNHS


Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Medium match SPINOCEREBELLAR ATAXIA TYPE 7


Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2; see this term), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

SPINOCEREBELLAR ATAXIA TYPE 7 Is also known as ataxia with pigmentary retinopathy|sca7|cerebellar syndrome-pigmentary maculopathy syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 7

Medium match MOHR-TRANEBJAERG SYNDROME


Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

Medium match PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME


PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Photophobia

Symptoms // Phenotype % cases
Nystagmus Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Reduced visual acuity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Blindness Gait ataxia Hearing impairment Phonophobia Hemiplegia Headache Migraine Dysphagia Mental deterioration Vomiting Nausea Hemiparesis Global developmental delay Tremor Visual impairment Diplopia Visual loss Sensorineural hearing impairment Vertigo Intellectual disability

Rare Symptoms - Less than 30% cases


Intention tremor Muscle weakness Hyperreflexia Spasticity Dysmetria Unsteady gait Progressive sensorineural hearing impairment Migraine with aura Dysphasia Motor delay Episodic ataxia Peripheral neuropathy Pallor Psychosis Gaze-evoked nystagmus Intellectual disability, mild Truncal ataxia Optic neuropathy Slurred speech Optic atrophy Optic disc pallor Neonatal hypotonia Babinski sign Cerebral atrophy Ophthalmoplegia Congestive heart failure Sensory impairment Macular degeneration Cone/cone-rod dystrophy Feeding difficulties Visual hallucinations Failure to thrive Spinocerebellar atrophy Chorioretinal dystrophy Abnormal upper motor neuron morphology Scanning speech Chorioretinal atrophy Hypogonadotrophic hypogonadism Primary amenorrhea Amenorrhea Progressive visual loss Retinal dystrophy Distal amyotrophy Dysdiadochokinesis Orofacial dyskinesia Ophthalmoparesis Agammaglobulinemia Progressive muscle weakness Telangiectasia Cutaneous photosensitivity Neurodegeneration Pes cavus Immunodeficiency Flexion contracture Microcephaly Short stature Postlingual sensorineural hearing impairment Basal ganglia gliosis Abnormal posturing Constriction of peripheral visual field Paraplegia Increased susceptibility to fractures Abnormal electroretinogram Cerebral visual impairment Neuronal loss in central nervous system Gliosis Cerebral cortical atrophy Hyperactivity Dementia Dystonia Myopia Abnormal fundus morphology Hemeralopia Restless legs Generalized-onset seizure Hypogonadism Infertility Delayed speech and language development Myopathy Stroke Autistic behavior Developmental regression Intellectual disability, moderate Rod-cone dystrophy Depressivity Behavioral abnormality Edema Nyctalopia Fever Broad-based gait Paresthesia Hallucinations Hemiplegia/hemiparesis Abnormality of retinal pigmentation Horizontal nystagmus Pigmentary retinopathy Progressive hearing impairment Abnormality of movement Neurological speech impairment EEG abnormality Delayed gross motor development Agitation Vestibular dysfunction Confusion Coma Delayed puberty Nausea and vomiting Spastic paraplegia Inappropriate laughter Hyporeflexia Areflexia Abnormality of metabolism/homeostasis Skeletal muscle atrophy Cognitive impairment Hypometric saccades Urinary urgency Cerebellar hypoplasia Central scotoma Fatigue Generalized hypotonia Abnormal cerebellum morphology Transient unilateral blurring of vision Personality disorder Migraine without aura Borderline personality disorder Drowsiness Restlessness Severe hearing impairment Blurred vision Aphasia Loss of consciousness Tinnitus Apraxia Conjunctival telangiectasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Hypercholesterolemia, related diseases and genetic alterations Edema and Dandy-Walker malformation, related diseases and genetic alterations Myopathy and Abdominal pain, related diseases and genetic alterations Failure to thrive and Triangular face, related diseases and genetic alterations Anemia and Hypertonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more