Hyperreflexia, and Alzheimer disease

Diseases related with Hyperreflexia and Alzheimer disease

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

Top matches:

X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

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

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

PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2 Is also known as pdj|parkinson disease, juvenile, autosomal recessive|parkinsonism, early-onset, with diurnal fluctuation|epdf

Related symptoms:

  • Neoplasm
  • Peripheral neuropathy
  • Hyperreflexia
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

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

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

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

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd|frontotemporal dementia with parkinsonism|ftld with tau inclusions|ddpac|ftdp17|wilhelmsen-lynch disease|pallidopontonigral degeneration|frontotemporal lobar degeneration with tau inclusions|frontotemporal lobe dementia|disinhibition-dementia-parkins

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA; FTD

Top 5 symptoms//phenotypes associated to Hyperreflexia and Alzheimer disease

Symptoms // Phenotype % cases
Dementia Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases
Neuronal loss in central nervous system Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Neurofibrillary tangles

Uncommon Symptoms - Between 30% and 50% cases

Bradykinesia

Common Symptoms - More than 50% cases

Senile plaques

Uncommon Symptoms - Between 30% and 50% cases

Parkinsonism Dysarthria Postural instability Dysphagia Lewy bodies Abnormal pyramidal sign Spasticity Frontotemporal dementia Dystonia Mutism Cerebral cortical atrophy Personality changes Gliosis Apathy Gait disturbance Inappropriate behavior Memory impairment Confusion Apraxia Babinski sign Cognitive impairment Myoclonus Urinary incontinence Disinhibition Ataxia Seizures Dyskinesia Brain atrophy Abnormality of extrapyramidal motor function Shuffling gait Depressivity

Rare Symptoms - Less than 30% cases

Fasciculations Hyperorality Dysgraphia Perseveration Frontal lobe dementia Neurodegeneration Dyscalculia Behavioral abnormality Primitive reflex Ventriculomegaly Astrocytosis Frontal release signs Delusions Lack of insight Dysphasia Leukoencephalopathy Abnormality of the cerebral white matter Amyotrophic lateral sclerosis Language impairment Skeletal muscle atrophy Spastic paraparesis Resting tremor Aggressive behavior Cerebral atrophy Abnormality of eye movement Peripheral demyelination Progressive neurologic deterioration Cogwheel rigidity Paraparesis Anxiety Urinary urgency Abnormal autonomic nervous system physiology Hallucinations Hypotension Sleep disturbance Inability to walk Diffuse leukoencephalopathy Encephalopathy Delayed speech and language development Orthostatic hypotension Restless legs Vegetative state CNS demyelination Insomnia Atrophy/Degeneration affecting the brainstem Decreased number of peripheral myelinated nerve fibers Muscle stiffness Leukodystrophy Hypokinesia Orofacial dyskinesia Hypoventilation Supranuclear gaze palsy Anomia Inappropriate sexual behavior Prosopagnosia Parasomnia Semantic dementia Inappropriate laughter Stiff neck Alcoholism Degeneration of anterior horn cells Upper motor neuron dysfunction Polyphagia Parkinsonism with favorable response to dopaminergic medication Aphasia Agitation Postural tremor Schizophrenia Poor speech Irritability Dilatation Myopathy Micrographia Difficulty walking Central hypoventilation Optic ataxia Mask-like facies Abnormal cerebellum morphology Morphological abnormality of the pyramidal tract Hypertonia Hyporeflexia Truncal ataxia Substantia nigra gliosis Olivopontocerebellar atrophy Sensory axonal neuropathy Impaired vibratory sensation Abnormality of the adrenal glands Peripheral axonal neuropathy Falls Abnormality of movement Respiratory failure Diabetes mellitus Peripheral neuropathy Neoplasm Cerebral amyloid angiopathy Frontal cortical atrophy Stereotypy Global brain atrophy Restlessness Ophthalmoparesis Bulbar palsy Ankle clonus Scissor gait Hypoplasia of the corpus callosum Loss of speech Limb apraxia Agnosia Anarthria Hyperactive deep tendon reflexes Diffuse cerebral atrophy Dilation of lateral ventricles Lower limb hyperreflexia Spastic tetraparesis Abnormal lower motor neuron morphology Spastic gait Tetraparesis Psychosis Dilated third ventricle Kyphoscoliosis Paraplegia Ophthalmoplegia Spastic paraplegia Headache Speech apraxia Socially inappropriate behavior


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