Dysarthria, and Cerebral cortical atrophy

Diseases related with Dysarthria and Cerebral cortical atrophy

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

Top matches:

Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.

Related symptoms:

  • Dysarthria
  • Dystonia
  • Cerebral cortical atrophy
  • Parkinsonism
  • Torticollis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY DYSTONIA, DYT17 TYPE

Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Related symptoms:

  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral cortical atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL CEREBELLAR ATAXIA DUE TO RNU12 MUTATION

Other less relevant matches:

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 12; SCA12

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4

Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

Related symptoms:

  • Seizures
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dystonia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 20, EARLY-ONSET; PARK20

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Top 5 symptoms//phenotypes associated to Dysarthria and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Apraxia Uncommon - Between 30% and 50% cases
Personality changes Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Cerebral cortical atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Dysphagia Gait ataxia Apathy Seizures Cognitive impairment Hyporeflexia Abnormality of movement Fasciculations Mutism Ataxia Delusions Frontotemporal dementia Rigidity

Rare Symptoms - Less than 30% cases

Irritability Action tremor Mental deterioration Progressive cerebellar ataxia Abnormality of eye movement Gait disturbance Behavioral abnormality Disinhibition Chorea Memory impairment Bradykinesia Involuntary movements Speech apraxia Abnormality of the eye Skeletal muscle atrophy Language impairment Alzheimer disease Amyotrophic lateral sclerosis Bulbar palsy Abnormal lower motor neuron morphology Primitive reflex Shuffling gait Anxiety Cerebellar atrophy Nystagmus Depressivity Tremor Abnormal cortical gyration Spastic paraparesis Abnormality of the substantia nigra Slow saccadic eye movements Olivopontocerebellar hypoplasia Psychosis Cerebral white matter atrophy Supranuclear ophthalmoplegia Tetraparesis Spastic gait Paraparesis Spastic tetraparesis Kinetic tremor Leukoencephalopathy Lower limb hyperreflexia Neurofibrillary tangles Lewy bodies Dysgraphia Anarthria Dyscalculia Agnosia Limb apraxia Dysphasia Abnormality of extrapyramidal motor function Abnormality of the spinocerebellar tracts Constipation Weak voice Supranuclear gaze palsy Ophthalmoparesis Eyelid apraxia Staring gaze Drooling Postural instability Dyskinesia Generalized tonic-clonic seizures Spasticity Headache Neuronal loss in central nervous system Babinski sign Myoclonus Abnormal cell morphology Spastic paraplegia Abnormality of the cerebral white matter Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Ophthalmoplegia Paraplegia Brain atrophy Hyperactive deep tendon reflexes Caudate atrophy Postural tremor Hand tremor Delayed gross motor development Decreased liver function Frequent falls Broad-based gait Intention tremor Febrile seizures Difficulty walking Aplasia/Hypoplasia of the cerebellar vermis Abnormal myelination Spastic dysarthria Progressive spastic paraplegia Abnormal corpus callosum morphology Lower limb spasticity Agenesis of corpus callosum Intellectual disability, mild Cataract Hearing impairment Global developmental delay Craniofacial dystonia Torsion dystonia Generalized dystonia Dysphonia Torticollis Cerebellar vermis atrophy Poor fine motor coordination Muscle cramps Falls Generalized hypotonia Echolalia Progressive muscle weakness Muscle weakness Abnormality of the cerebrum Abnormal corpus striatum morphology Functional motor deficit Acanthocytosis Hallucinations Neurodegeneration Weight loss Infantile axial hypotonia Facial myokymia Limb tremor Axial dystonia Myokymia Spinocerebellar tract degeneration Head tremor Dysdiadochokinesis Sensorimotor neuropathy Dysmetria Peripheral neuropathy Neurodevelopmental abnormality Optic ataxia


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