Hyperreflexia, and Confusion

Diseases related with Hyperreflexia and Confusion

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

Top matches:

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Medium match ABRI AMYLOIDOSIS

ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia|fbd|cerebral amyloid angiopathy, british type|familial dementia, british type|dementia, familial british

Related symptoms:

  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Hypertonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ABRI AMYLOIDOSIS

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Other less relevant matches:

A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 Is also known as dem|dementia, familial nonspecific|dmt1

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Dystonia
  • Cerebral atrophy
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.

JUVENILE PRIMARY LATERAL SCLEROSIS Is also known as juvenile pls|pls, juvenile|jpls

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PRIMARY LATERAL SCLEROSIS

SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD ). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 17; SCA17 Is also known as hdl4|huntington disease-like 4

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 17; SCA17

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Top 5 symptoms//phenotypes associated to Hyperreflexia and Confusion

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Abnormal pyramidal sign Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Confusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Mutism Seizures Neuronal loss in central nervous system Dysphagia Babinski sign Tremor Personality changes Mental deterioration Myoclonus Behavioral abnormality Depressivity Urinary incontinence Cerebral atrophy Dysarthria Memory impairment Gliosis Neurodegeneration Alzheimer disease Hallucinations Frontal release signs Dystonia Cerebral cortical atrophy Senile plaques Muscle weakness Loss of speech Apathy Spastic tetraparesis Progressive neurologic deterioration Paralysis Muscle stiffness Gait ataxia

Rare Symptoms - Less than 30% cases

Visual impairment Headache Frontotemporal dementia Delusions Generalized-onset seizure Abnormal cerebellum morphology Astrocytosis Lack of insight Cognitive impairment Difficulty walking Intellectual disability Atrophy/Degeneration affecting the brainstem Encephalopathy Irritability Parkinsonism Hyperkinesis Brain atrophy Bradykinesia Inability to walk Frontal lobe dementia Abnormality of extrapyramidal motor function Apraxia CNS demyelination Inappropriate behavior Nystagmus Psychosis Peripheral neuropathy Tetraparesis Clumsiness Spastic gait Paraparesis Amyotrophic lateral sclerosis Spastic dysarthria Abnormal upper motor neuron morphology Hypertonia Truncal ataxia Neurofibrillary tangles Progressive cerebellar ataxia Peripheral demyelination Gait disturbance Paranoia Aggressive behavior Coma Anxiety Reduced visual acuity Respiratory insufficiency Recurrent infections Myopathy Blindness Hydrocephalus Cataract Acute encephalopathy Urinary hesitancy Intellectual disability, mild Brain neoplasm Incoordination Emotional lability Cogwheel rigidity Respiratory failure Diplopia Paresthesia Autoimmunity Scarring Constipation Visual loss Craniofacial dystonia Facial palsy Pain Neoplasm Hearing impairment Hemiparesis Unsteady gait Visual hallucinations Extrapyramidal muscular rigidity Focal-onset seizure Loss of facial expression Status epilepticus Normal pressure hydrocephalus External ophthalmoplegia Global developmental delay Bilateral ptosis Focal impaired awareness seizure Abnormality of mitochondrial metabolism Morphological abnormality of the pyramidal tract Dysesthesia Supranuclear gaze palsy Ophthalmoplegia Hirano bodies Increased CSF protein Muscle fibrillation Generalized hypotonia Visual field defect Blurred vision Aphasia Abnormality of the nervous system Language impairment Ptosis Abnormality of the basal ganglia Cerebral visual impairment Choreoathetosis Fever Muscular hypotonia of the trunk Pallor Impaired pursuit initiation and maintenance Restlessness Leukoencephalopathy Leukodystrophy Postural instability Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Ventriculomegaly Frontal cortical atrophy Hyperorality Dyscalculia Perseveration Dysgraphia Disinhibition Orofacial dyskinesia Global brain atrophy Insomnia Stereotypy Lafora bodies Spastic ataxia Frequent falls Spastic tetraplegia Generalized myoclonic seizures Tetraplegia Falls Cerebral amyloid angiopathy Abnormality of the adrenal glands Abnormal nerve conduction velocity Degeneration of the lateral corticospinal tracts Spastic paraparesis Peripheral axonal neuropathy Decreased number of peripheral myelinated nerve fibers Shuffling gait Pontocerebellar atrophy Spasticity of pharyngeal muscles Positive Romberg sign Alcoholism Focal dystonia Diffuse cerebral atrophy Lower limb hyperreflexia Gaze-evoked nystagmus Torticollis Limb ataxia Broad-based gait Intention tremor Chorea Dysmetria Abnormality of eye movement Cerebellar atrophy Spasticity of facial muscles Vegetative state Pseudobulbar behavioral symptoms Difficulty in tongue movements Abnormality of the bladder Saccadic smooth pursuit Gait imbalance Oral-pharyngeal dysphagia Slurred speech Drooling Sensory neuropathy Paraplegia Spastic paraplegia Skeletal muscle atrophy Diffuse leukoencephalopathy Restless legs Focal motor seizures


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