Dysarthria, and Photophobia

Diseases related with Dysarthria and Photophobia

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


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

High 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

High 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

High 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

High match CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME


Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

High match SJÖGREN-LARSSON SYNDROME


Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

High match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Top 5 symptoms//phenotypes associated to Dysarthria and Photophobia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Tremor Spasticity Visual impairment Visual loss Cerebellar atrophy Intellectual disability Blindness Nausea Migraine Hearing impairment Nystagmus Unsteady gait Hyperreflexia Hemiplegia Headache Hemiparesis Intention tremor Diplopia Dystonia Vomiting

Rare Symptoms - Less than 30% cases


Babinski sign Slurred speech Gait disturbance Cognitive impairment Irritability Abnormality of metabolism/homeostasis Retinopathy Hypogonadism Failure to thrive Muscle weakness Neurodegeneration Cerebral atrophy Reduced visual acuity Apathy Hyperkeratosis Sensory impairment Macular degeneration Microcephaly Sensorineural hearing impairment Progressive sensorineural hearing impairment Neuronal loss in central nervous system Gliosis Peripheral neuropathy Dementia Myopia Optic atrophy Pneumonia Short stature Apraxia Behavioral abnormality Confusion Dysmetria Stroke Aphasia Blurred vision Episodic ataxia Vertigo Depressivity Phonophobia Coma Motor delay Axial dystonia Frontotemporal dementia Abnormality of retinal pigmentation Abnormality of dental enamel Urticaria Spastic diplegia Aspiration pneumonia Generalized hyperpigmentation Corneal erosion Inflammatory abnormality of the eye Dry skin Diarrhea Hernia Inguinal hernia Hypoventilation Limb dystonia Recurrent respiratory infections Respiratory tract infection Scarring Ichthyosis Neurological speech impairment Vertical supranuclear gaze palsy Frontolimbic dementia Abnormal saccadic eye movements Retrocollis Frontal release signs Eyelid apraxia Parkinsonism with favorable response to dopaminergic medication Gait imbalance Neuronal loss in basal ganglia Granulovacuolar degeneration Scoliosis Abnormal pyramidal sign Muscular hypotonia Kyphosis Tics Fever Central apnea Erythema Joint stiffness Delayed speech and language development Supranuclear gaze palsy Skeletal dysplasia Cerebellar hypoplasia Abnormality of skin pigmentation Type II diabetes mellitus Encephalopathy Rod-cone dystrophy Abnormality of the liver Peripheral axonal neuropathy Cirrhosis Distal sensory impairment Sensory neuropathy Polyneuropathy Pigmentary retinopathy Status epilepticus Hepatomegaly Cholestasis Sensorimotor neuropathy Hypergonadotropic hypogonadism Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Fat malabsorption Frontal bossing Epicanthus Alzheimer disease Inflammation of the large intestine Chronic diarrhea Bronchiectasis Hypohidrosis Hyperpigmentation of the skin Recurrent pneumonia Opacification of the corneal stroma Corneal dystrophy Failure to thrive in infancy Keratitis Colitis Cataract Amyloidosis Ulcerative colitis Focal dystonia Enterocolitis Corneal scarring Broad eyebrow Urethral stricture Recurrent infection of the gastrointestinal tract Cutaneous amyloidosis Generalized reticulate brown pigmentation Neurofibrillary tangles Aspiration Stridor Severe hearing impairment Abnormal upper motor neuron morphology Chorioretinal dystrophy Spinocerebellar atrophy Migraine with aura Feeding difficulties Drowsiness Congestive heart failure Restlessness Neonatal hypotonia Chorioretinal atrophy Dysphasia Ophthalmoplegia Psychosis Loss of consciousness Cone/cone-rod dystrophy Dysdiadochokinesis Ophthalmoparesis Orofacial dyskinesia Restless legs Scanning speech Hypogonadotrophic hypogonadism Abnormal fundus morphology Areflexia Fatigue Urinary urgency Gaze-evoked nystagmus Hypometric saccades Generalized hypotonia Transient unilateral blurring of vision Skeletal muscle atrophy Personality disorder Migraine without aura Hyporeflexia Primary amenorrhea Borderline personality disorder Spastic paraplegia Delayed puberty Infertility Paraplegia Distal amyotrophy Retinal dystrophy Progressive visual loss Amenorrhea Hemeralopia Tinnitus Postural tremor Brain atrophy Respiratory failure Dyspnea Rigidity Apnea Cough Falls Postural instability Parkinsonism Syncope Memory impairment Intellectual disability, mild Bradykinesia Clumsiness Frequent falls Truncal ataxia Mutism Eosinophilia Edema Oral-pharyngeal dysphagia Akinesia Myoclonus Conjunctival telangiectasia Abnormal cerebellum morphology Abnormal posturing Paresthesia Hyperactivity Cerebral cortical atrophy Cerebral visual impairment Abnormal electroretinogram Increased susceptibility to fractures Constriction of peripheral visual field Optic neuropathy Agammaglobulinemia Basal ganglia gliosis Progressive muscle weakness Postlingual sensorineural hearing impairment Autistic behavior Developmental regression Flexion contracture Immunodeficiency Pes cavus Intellectual disability, moderate Cutaneous photosensitivity Telangiectasia Biliary tract abnormality



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