Autoimmunity, and Bradykinesia

Diseases related with Autoimmunity and Bradykinesia

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


Top matches:

Low match X-LINKED DYSTONIA-PARKINSONISM


X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.

X-LINKED DYSTONIA-PARKINSONISM Is also known as lubag|lubag syndrome|torsion dystonia-parkinsonism, filipino type|xdp|dyt3|dystonia-parkinsonism, x-linked

Related symptoms:

  • Hearing impairment
  • Tremor
  • Dystonia
  • Myoclonus
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED DYSTONIA-PARKINSONISM

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match INFANTILE DYSTONIA-PARKINSONISM


Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

INFANTILE DYSTONIA-PARKINSONISM Is also known as dopamine transporter deficiency syndrome|ipd|pkdys|dtds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE DYSTONIA-PARKINSONISM

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Low match PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13


Related symptoms:

  • Tremor
  • Rigidity
  • Bradykinesia
  • Parkinsonism with favorable response to dopaminergic medication


SOURCES: MESH OMIM MENDELIAN

More info about PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13

Low match PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11


Related symptoms:

  • Rigidity
  • Postural instability
  • Bradykinesia
  • Resting tremor
  • Parkinsonism with favorable response to dopaminergic medication


SOURCES: MESH OMIM MENDELIAN

More info about PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11

Low match CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME


Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Low match PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18


Parkinson disease-18 is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see {168600}.

Related symptoms:

  • Tremor
  • Rigidity
  • Parkinsonism
  • Bradykinesia
  • Resting tremor


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK18

Top 5 symptoms//phenotypes associated to Autoimmunity and Bradykinesia

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Bradykinesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Parkinsonism with favorable response to dopaminergic medication Cognitive impairment Postural instability Resting tremor Abnormality of movement Irritability Seizures Limb dystonia Mental deterioration Dysarthria

Rare Symptoms - Less than 30% cases


Hearing impairment Neurofibrillary tangles Hallucinations Lewy bodies Neuronal loss in central nervous system Memory impairment Apraxia Generalized hypotonia Supranuclear gaze palsy Vertical supranuclear gaze palsy Global developmental delay Gliosis Feeding difficulties Morphological abnormality of the pyramidal tract Cerebral atrophy Muscular hypotonia of the trunk Cerebral palsy Brain atrophy Syncope Alzheimer disease Dyskinesia Babinski sign Myoclonus Chorea Frequent falls Hyperreflexia Falls Aspiration pneumonia Gait disturbance Abnormality of extrapyramidal motor function Dementia Abnormal pyramidal sign Hypergonadotropic hypogonadism Bilateral sensorineural hearing impairment Psychosis Fine hair Myocardial infarction Primary amenorrhea Sparse scalp hair Choreoathetosis Diabetes mellitus Amenorrhea Hypogonadotrophic hypogonadism Purpura Hyperlipidemia Peripheral neuropathy Micropenis Premature ovarian insufficiency Sparse eyebrow Flat occiput Dehydration Protruding ear Hypogonadism Frontal bossing Sparse hair Alopecia Prominent nasal bridge Aplasia/Hypoplasia of the eyebrow Abnormality of metabolism/homeostasis Intellectual disability, mild Arthrogryposis multiplex congenita Diarrhea Camptodactyly Downslanted palpebral fissures Hypotrichosis Delayed puberty Sensory neuropathy Polyneuropathy High forehead Hypothyroidism Prominent nose Dental malocclusion Decreased testicular size Triangular face Respiratory failure Hypoplasia of the uterus Hypoventilation Eosinophilia Slurred speech Apathy Oral-pharyngeal dysphagia Akinesia Postural tremor Stridor Blurred vision Aphasia Frontotemporal dementia Aspiration Central apnea Tics Gait imbalance Axial dystonia Abnormal saccadic eye movements Retrocollis Frontal release signs Eyelid apraxia Neuronal loss in basal ganglia Granulovacuolar degeneration Mutism Diplopia Autoimmune thrombocytopenia Progressive extrapyramidal movement disorder Insulin-resistant diabetes mellitus Heart block Anodontia Decreased serum testosterone level Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Streak ovary Decreased serum insulin-like growth factor 1 Hypoplasia of the fallopian tube Clumsiness Progressive alopecia Dysphagia Behavioral abnormality High palate Dyspnea Photophobia Apnea Stroke Cough Neurodegeneration Delayed speech and language development Increased CSF interferon alpha Sensorineural hearing impairment Agenesis of corpus callosum Hepatomegaly Fever Abnormality of the skeletal system Cerebellar atrophy Splenomegaly Dilatation Recurrent infections Thrombocytopenia Encephalopathy Glaucoma Strabismus Cerebral cortical atrophy Hepatosplenomegaly Elevated hepatic transaminase Feeding difficulties in infancy Skin rash Severe global developmental delay Abnormality of the cerebral white matter Tetraplegia Peripheral demyelination Spasticity Nystagmus Hepatitis Impaired oropharyngeal swallow response Difficulty walking Protruding tongue Hand tremor Blepharospasm Shuffling gait Focal dystonia Torsion dystonia Laryngeal stridor Progressive extrapyramidal muscular rigidity Depressivity Microcephaly Ophthalmoplegia Confusion Muscle stiffness Paraparesis Spastic paraparesis Loss of consciousness Delusions Visual hallucinations Senile plaques Fluctuations in consciousness Cerebral calcification Spastic tetraplegia Hypertelorism Recurrent pneumonia Deep white matter hypodensities Flexion contracture Hypertonia Absent speech Constipation Gastroesophageal reflux Abnormality of the eye Abnormality of eye movement Involuntary movements Delayed gross motor development Chilblains Hyperkinesis Hypokinesia Limb hypertonia Hypomimic face Orofacial dyskinesia Oculogyric crisis Ocular flutter Abnormality of carboxylic acid metabolism Intellectual disability Scoliosis Chronic CSF lymphocytosis CSF lymphocytic pleiocytosis Intellectual disability, profound Congenital glaucoma Postnatal microcephaly Progressive microcephaly Leukodystrophy Leukoencephalopathy Poor head control Encephalitis Systemic lupus erythematosus Spastic diplegia Petechiae Prolonged neonatal jaundice Multiple gastric polyps Basal ganglia calcification Atrophy/Degeneration affecting the brainstem Episodic fever Progressive encephalopathy Acrocyanosis Diffuse cerebral atrophy Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Frontolimbic dementia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Craniosynostosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more