Arthritis, and Alzheimer disease

Diseases related with Arthritis and Alzheimer disease

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


Top matches:

Low match X-LINKED PARKINSONISM-SPASTICITY SYNDROME


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

Low match FRONTOTEMPORAL DEMENTIA; FTD


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

Low match NASU-HAKOLA DISEASE


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

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Other less relevant matches:

Low match ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9


ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9 Is also known as alzheimer disease 9, late-onset

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Cerebral cortical atrophy
  • Parkinsonism
  • Memory impairment


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO; AD9

Low match ALZHEIMER DISEASE 2; AD2


A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]

ALZHEIMER DISEASE 2; AD2 Is also known as alzheimer disease associated with apoe4|alzheimer disease 2, late-onset

Related symptoms:

  • Hypertension
  • Dementia
  • Diabetes mellitus
  • Stroke
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about ALZHEIMER DISEASE 2; AD2

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), 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.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match NONAKA MYOPATHY; NM


NONAKA MYOPATHY; NM Is also known as myopathy, distal, with or without rimmed vacuoles|gne myopathy|inclusion body myopathy 2, autosomal recessive, formerly|ibm2, formerly|hibm|nonaka distal myopathy|inclusion body myopathy, quadriceps-sparing|qsm|inclusion body myopathy, hereditary, autosom

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Gait disturbance
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NONAKA MYOPATHY; NM

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

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

Symptoms // Phenotype % cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Dementia Uncommon - Between 30% and 50% cases
Cerebral cortical atrophy Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Apraxia Gliosis Memory impairment Behavioral abnormality Senile plaques Rigidity Disinhibition Ventriculomegaly Aphasia Frontotemporal dementia Irritability Mental deterioration Primitive reflex Gait disturbance Seizures Personality changes Bradykinesia Tremor

Rare Symptoms - Less than 30% cases


Hyperorality Neurodegeneration Postural tremor Polyphagia Apathy Language impairment Cerebral atrophy Spasticity Frontal lobe dementia Abnormality of extrapyramidal motor function Lewy bodies Urinary incontinence Resting tremor Postural instability Cognitive impairment Hyperreflexia Depressivity Inappropriate laughter Perseveration Myopathy Inappropriate behavior Lack of insight Semantic dementia Agnosia Ataxia Aggressive behavior Babinski sign Abnormal pyramidal sign Elevated serum creatine phosphokinase Emotional blunting Muscle weakness Echolalia Sensory impairment Stereotypy Functional abnormality of the gastrointestinal tract Basal ganglia calcification Axonal loss Acute leukemia Cerebral edema Bone cyst Abnormal upper motor neuron morphology Caudate atrophy Long-tract signs Abnormal adipose tissue morphology Euphoria Delusions Hippocampal atrophy Hypertension Stroke Myocardial infarction Diabetes mellitus Substantia nigra gliosis Proximal muscle weakness Hand tremor Peripheral axonal neuropathy Sensorimotor neuropathy Foot dorsiflexor weakness Unsteady gait Hyporeflexia Delayed speech and language development Intention tremor Abnormal autonomic nervous system physiology Akinesia Areflexia Peripheral neuropathy Deposits immunoreactive to beta-amyloid protein Shuffling gait Distal muscle weakness Morphological abnormality of the central nervous system Muscle fiber atrophy Limb-girdle muscle weakness Abnormality of the hand Myositis Rimmed vacuoles Limb-girdle muscular dystrophy Hyposmia Parkinsonism with favorable response to dopaminergic medication EMG: myopathic abnormalities Distal sensory impairment Distal amyotrophy Muscular dystrophy Pathologic fracture Socially inappropriate behavior Reduced bone mineral density Dysphagia Agitation Amyotrophic lateral sclerosis Schizophrenia Mutism Fasciculations Brain atrophy Confusion Poor speech Abnormality of eye movement Dilatation Dystonia Skeletal muscle atrophy Supranuclear gaze palsy Dysarthria Dilated third ventricle Scissor gait Cogwheel rigidity Dilation of lateral ventricles Diffuse cerebral atrophy Hyperactive deep tendon reflexes Ankle clonus Mask-like facies Spastic paraparesis Paraparesis Dyskinesia Dysphasia Upper motor neuron dysfunction Leukoencephalopathy EEG abnormality Oculomotor apraxia Bone pain Abnormality of epiphysis morphology Cerebral calcification Peripheral demyelination Limitation of joint mobility Chorea Abnormality of movement Abnormality of the foot Leukemia Neurological speech impairment Developmental regression Arthralgia Degeneration of anterior horn cells Skeletal dysplasia Myoclonus Edema Hydrocephalus Hypoplasia of the corpus callosum Pain Anomia Inappropriate sexual behavior Prosopagnosia Parasomnia Stiff neck Alcoholism Motor aphasia



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