Dysarthria, and Visual loss

Diseases related with Dysarthria and Visual loss

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

Top matches:

Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.

EARLY-ONSET X-LINKED OPTIC ATROPHY Is also known as optic atrophy, non-leber type, with early onset|optic atrophy type 2|opa2|non-leber type optic atrophy with early-onset|optic atrophy, x-linked

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Dysarthria
  • Optic atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about EARLY-ONSET X-LINKED OPTIC ATROPHY

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Medium 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:

A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 Is also known as progressive myoclonus epilepsy type 3|cln14|progressive myoclonic epilepsy due to kctd7 deficiency|epm3|pme type 3|cln14 disease|ceroid lipofuscinosis, neuronal, 14

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3

Medium 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

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

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

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

LEBER OPTIC ATROPHY AND DYSTONIA Is also known as leber hereditary optic neuropathy with dystonia|ldyt|dystonia, familial, with visual failure and striatal lucencies|marsden syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about LEBER OPTIC ATROPHY AND DYSTONIA

Top 5 symptoms//phenotypes associated to Dysarthria and Visual loss

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Progressive visual loss Common - Between 50% and 80% cases
Optic atrophy Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Blindness Seizures Dysmetria Spasticity Nystagmus Intellectual disability Mental deterioration Cognitive impairment Cerebellar atrophy Dysphagia Dementia Babinski sign Truncal ataxia Visual impairment Myoclonus Peripheral neuropathy Ophthalmoplegia Paraplegia Areflexia Spastic paraplegia Difficulty walking Muscle weakness Reduced visual acuity Dysdiadochokinesis Generalized hypotonia Global developmental delay Gait disturbance Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Retinopathy Orofacial dyskinesia Ophthalmoparesis Scoliosis Macular degeneration Dystonia Abnormality of eye movement Bradykinesia Cerebral atrophy Developmental regression Strabismus Gait ataxia Retinal degeneration Spinocerebellar atrophy Incoordination Failure to thrive Intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Motor deterioration Encephalopathy Photophobia Unsteady gait Cutaneous photosensitivity Psychosis Abnormality of metabolism/homeostasis Distal amyotrophy Behavioral abnormality Spastic gait Hyporeflexia Pes cavus Absent Achilles reflex Hyperactive patellar reflex Optic neuropathy Abnormality of the nervous system Inability to walk Neurodegeneration Generalized myoclonic seizures Dyskinesia Athetosis Abnormal pyramidal sign Ptosis Generalized amyotrophy Scotoma Progressive cerebellar ataxia Motor delay Episodic ataxia Episodic generalized hypotonia Moderate hearing impairment Anarthria Drowsiness Progressive sensorineural hearing impairment Torticollis Horizontal nystagmus Limb ataxia Hemiparesis Centrally nucleated skeletal muscle fibers Central scotoma Increased CSF lactate Chorea Involuntary movements Postural tremor Neonatal hypotonia Supranuclear ophthalmoplegia Limb tremor Olivopontocerebellar atrophy Spinocerebellar tract degeneration Head tremor Slow saccadic eye movements Bipolar affective disorder Macular dystrophy Blurred vision Congestive heart failure Schizophrenia External ophthalmoplegia Sensory impairment Ragged-red muscle fibers Cone/cone-rod dystrophy Abnormality of extrapyramidal motor function Restless legs Pigmentary retinopathy Hemeralopia Abnormal fundus morphology Short stature Diarrhea Abnormality of the cerebral white matter Increased serum lactate Neuronal loss in central nervous system Feeding difficulties Postural instability Nevus Lethargy Flexion contracture of finger Visual hallucinations Hyperkinesis Absence seizures Hallucinations Progressive neurologic deterioration Apraxia Generalized-onset seizure Focal-onset seizure Hepatic failure Confusion Generalized tonic-clonic seizures Depressivity Headache Poor fine motor coordination Generalized tonic-clonic seizures with focal onset Ankle contracture Bulbar palsy Progressive spasticity Brisk reflexes Impaired vibratory sensation Spastic paraparesis Knee flexion contracture Distal sensory impairment Distal muscle weakness Flexion contracture Abnormality of mitochondrial metabolism Pallor Glaucoma Vegetative state Giant somatosensory evoked potentials Autistic behavior Delayed puberty Abnormality of the eye Sensorineural hearing impairment Hearing impairment Chorioretinal dystrophy Abnormal upper motor neuron morphology Scanning speech Chorioretinal atrophy Hypogonadotrophic hypogonadism Primary amenorrhea Intention tremor Amenorrhea Retinal dystrophy Infertility Hypogonadism Lafora bodies Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Abnormal nervous system electrophysiology Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Progressive encephalopathy Clumsiness Cerebral cortical atrophy Status epilepticus Absent speech Hypoplasia of the corpus callosum Microcephaly Simple partial occipital seizures Visual auras Leber optic atrophy


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