Abnormality of the skeletal system, and Alzheimer disease

Diseases related with Abnormality of the skeletal system and Alzheimer disease

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


Top 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

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Other less relevant matches:

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

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 PARKINSON-DEMENTIA SYNDROME


Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Low match ABETA AMYLOIDOSIS, DUTCH TYPE


Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.

ABETA AMYLOIDOSIS, DUTCH TYPE Is also known as hchwad|amyloidosis, hereditary, with cerebral hemorrhage, dutch variant|hereditary cerebral hemorrhage with amyloidosis, dutch type|cerebral amyloid angiopathy, app-related, iowa variant|cerebral amyloid angiopathy, app-related, italian variant|hchwa, dut

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertension
  • Behavioral abnormality
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETA AMYLOIDOSIS, DUTCH TYPE

Low 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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Alzheimer disease

Symptoms // Phenotype % cases
Neurofibrillary tangles Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Senile plaques 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 Abnormality of the skeletal system and Alzheimer disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Rigidity Tremor Hyperreflexia Behavioral abnormality Seizures Ataxia Bradykinesia Cerebral cortical atrophy Cognitive impairment

Rare Symptoms - Less than 30% cases


Frontotemporal dementia Progressive neurologic deterioration Lewy bodies Gait disturbance Spasticity Abnormal pyramidal sign Apathy Postural instability Aphasia Resting tremor Gliosis Hypertension Memory impairment Disinhibition Cerebral amyloid angiopathy Apraxia Stroke Ankle clonus Mask-like facies Spastic paraparesis Paraparesis Dyskinesia Babinski sign Hypertonia Substantia nigra gliosis Motor aphasia Diffuse cerebral atrophy Parkinsonism with favorable response to dopaminergic medication Hyposmia Shuffling gait Confusion Hand tremor Peripheral demyelination Truncal ataxia Hyperactive deep tendon reflexes Dilation of lateral ventricles Amyloidosis Akinesia Cerebral hemorrhage Transient ischemic attack Intracranial hemorrhage Cerebral ischemia Leukoencephalopathy Cerebellar hemorrhage Cerebral calcification Abnormality of the cerebral white matter Encephalopathy Inappropriate behavior Cogwheel rigidity Morphological abnormality of the pyramidal tract Recurrent cerebral hemorrhage Ophthalmoparesis Tortuous cerebral arteries Falls Abnormality of eye movement Kyphoscoliosis Dysarthria Dilated third ventricle Scissor gait Headache Unsteady gait Postural tremor Language impairment Muscle weakness Emotional blunting Semantic dementia Hyperorality Inappropriate laughter Perseveration Primitive reflex Echolalia Polyphagia Personality changes Stereotypy Elevated serum creatine phosphokinase Neurodegeneration Irritability Ventriculomegaly Agnosia Long-tract signs Myocardial infarction Diabetes mellitus Hippocampal atrophy Delusions Abnormality of extrapyramidal motor function Myopathy Proximal muscle weakness Abnormal autonomic nervous system physiology Cerebral atrophy Intention tremor Delayed speech and language development Foot dorsiflexor weakness Sensorimotor neuropathy Sensory impairment Distal sensory impairment Peripheral axonal neuropathy Depressivity Hyporeflexia Areflexia Peripheral neuropathy Distal muscle weakness Deposits immunoreactive to beta-amyloid protein Morphological abnormality of the central nervous system Muscle fiber atrophy Limb-girdle muscle weakness Myositis Rimmed vacuoles Limb-girdle muscular dystrophy EMG: myopathic abnormalities Distal amyotrophy Muscular dystrophy Abnormality of the adrenal glands



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