Dysarthria, and Blindness

Diseases related with Dysarthria and Blindness

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

Top matches:

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Is also known as harp syndrome

Related symptoms:

  • Spasticity
  • Dysarthria
  • Dysphagia
  • Blindness
  • Dystonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION

High match LAFORA DISEASE

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

LAFORA DISEASE Is also known as epm2a|lafora disease|progressive myoclonus epilepsy type 2|lafora body disease|pme type 2|epilepsy, progressive myoclonic, 2a|melf|epm2|lbd|progressive myoclonic epilepsy type 2

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LAFORA DISEASE

Other less relevant matches:

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 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

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

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

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

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

CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form|nbia1, classic form|pkan, classic form

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Dysarthria and Blindness

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dysmetria Seizures Visual loss Spasticity Tremor Global developmental delay Optic atrophy Dementia Progressive visual loss Gait ataxia Mental deterioration Behavioral abnormality Hearing impairment Orofacial dyskinesia Pigmentary retinopathy Inability to walk Psychosis Gait disturbance Depressivity Retinopathy

Rare Symptoms - Less than 30% cases

Muscle weakness Intellectual disability Spinocerebellar atrophy Head tremor Ophthalmoparesis Photophobia Developmental regression Macular degeneration Progressive cerebellar ataxia Ophthalmoplegia Autistic behavior Hemiparesis Generalized hypotonia Blurred vision Reduced visual acuity Babinski sign Episodic ataxia Failure to thrive Visual impairment Incoordination Cerebellar atrophy Encephalopathy Retinal degeneration Areflexia Apraxia Dysdiadochokinesis Motor deterioration Truncal ataxia Drowsiness Dystonia Headache Chorea Myoclonus Clumsiness Difficulty walking Abnormal pyramidal sign Frequent falls Confusion Eye of the tiger anomaly of globus pallidus Rod-cone dystrophy Paraplegia Dyskinesia Generalized myoclonic seizures Parkinsonism Abnormality of extrapyramidal motor function Neurological speech impairment External ophthalmoplegia Schizophrenia Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Irritability Neuronal loss in central nervous system Spastic paraplegia Olivopontocerebellar atrophy Horizontal nystagmus Abnormality of the eye Lethargy Abnormality of eye movement Postural instability Bradykinesia Limb ataxia Torticollis Ptosis Obsessive-compulsive behavior Progressive sensorineural hearing impairment Anarthria Moderate hearing impairment Episodic generalized hypotonia Impulsivity Spinocerebellar tract degeneration Rigidity Limb tremor Muscle stiffness Hemeralopia Abnormal fundus morphology Weight loss Attention deficit hyperactivity disorder Cough Optic disc pallor Increased susceptibility to fractures Cone/cone-rod dystrophy Toe walking Mask-like facies Opisthotonus Aspiration pneumonia Generalized dystonia Abnormality of the tongue Abnormal posturing Restless legs Sensory impairment Supranuclear ophthalmoplegia Proximal amyotrophy Pes cavus Sensory neuropathy Sensorimotor neuropathy Oculomotor apraxia Mildly elevated creatine phosphokinase Impaired vibration sensation in the lower limbs Spastic dysarthria Neonatal hypotonia Conjunctival telangiectasia Elevated alpha-fetoprotein Cochlear degeneration Feeding difficulties Motor delay Congestive heart failure Cerebral atrophy Abnormality of the nervous system Sensorineural hearing impairment Emotional lability Paresthesia Vomiting Intellectual disability, mild Abnormality of metabolism/homeostasis Intellectual disability, moderate Pallidal degeneration Stroke Vertigo Fever Nausea Coma Abnormal cerebellum morphology Migraine Intention tremor Decreased LDL cholesterol concentration Edema Delayed speech and language development Tinnitus Hyperkinesis Generalized-onset seizure Neurodegeneration Cutaneous photosensitivity Progressive neurologic deterioration Hallucinations Absence seizures Visual hallucinations Generalized tonic-clonic seizures Vegetative state Generalized tonic-clonic seizures with focal onset Giant somatosensory evoked potentials Lafora bodies Visual auras Simple partial occipital seizures Hepatic failure Diplopia Hemiplegia Peripheral neuropathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Tongue atrophy Oromandibular dystonia Progressive encephalopathy Upper motor neuron dysfunction Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Nevus Abnormal nervous system electrophysiology Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Focal dystonia Strabismus Focal-onset seizure Limb dystonia Inertia Violent behavior Loss of consciousness Abnormal retinal morphology Aphasia Dysphasia Tapetoretinal degeneration Severe hearing impairment Restlessness Acanthocytosis Migraine with aura Unsteady gait Phonophobia Borderline personality disorder Migraine without aura Personality disorder Transient unilateral blurring of vision Nyctalopia Cerebral cortical atrophy Iron accumulation in brain


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