Dysarthria, and Dementia

Diseases related with Dysarthria and Dementia

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

Top matches:

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Other less relevant matches:

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP ) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010).See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD ), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Myopathy
  • Dementia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14

Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Dystonia
  • Headache


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5

Medium match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Top 5 symptoms//phenotypes associated to Dysarthria and Dementia

Symptoms // Phenotype % cases
Parkinsonism Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressivity Dystonia Mental deterioration Rigidity Hyperreflexia Babinski sign Neuronal loss in central nervous system Gait disturbance

Rare Symptoms - Less than 30% cases

Paralysis Amyotrophic lateral sclerosis Frontotemporal dementia Anxiety Pallor Dyskinesia Abnormal pyramidal sign Migraine Athetosis Abnormality of eye movement Progressive cerebellar ataxia Cerebellar atrophy Cerebral atrophy Abnormality of extrapyramidal motor function Personality changes Limb ataxia Action tremor Head tremor Gait ataxia Chorea Memory impairment Psychosis Basal ganglia calcification Sensory neuropathy Peripheral neuropathy Myoclonus Postural tremor Kinetic tremor Dysmetria Sensorimotor neuropathy CNS demyelination Impaired proprioception Frontal release signs Slow saccadic eye movements Kyphoscoliosis Hand tremor Impaired vibration sensation in the lower limbs Resting tremor Cerebellar vermis atrophy Impaired vibratory sensation Falls Postural instability Bradykinesia Ophthalmoparesis Agenesis of corpus callosum Alzheimer disease Primitive reflex Peripheral demyelination Neurofibrillary tangles Abnormality of movement Hypoglycemia Lewy bodies Pes cavus Senile plaques Fatigue Fever Morphological abnormality of the pyramidal tract Inappropriate behavior Hearing impairment Polyneuropathy Motor tics Diffuse cerebral atrophy Palilalia Atonic seizures Sensory axonal neuropathy Generalized myoclonic seizures Generalized tonic-clonic seizures Difficulty walking Cerebellar hypoplasia Visual hallucinations Skeletal muscle atrophy Slurred speech Hallucinations Choreoathetosis Cerebral calcification Neurological speech impairment Behavioral abnormality Hypertonia Muscle weakness Myopathy Emotional lability Involuntary movements Focal-onset seizure Muscular hypotonia of the trunk Generalized hypotonia Astrocytosis Axonal loss Drooling Gliosis Respiratory failure Dysphagia Apathy Vertigo Headache Fasciculations Neurodegeneration Limb muscle weakness Impaired distal vibration sensation


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