Autoimmunity, and Parkinsonism

Diseases related with Autoimmunity and Parkinsonism

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


Top matches:

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

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 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

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Other less relevant matches:

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 BRAIN-LUNG-THYROID SYNDROME


Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Low match GORDON HOLMES SYNDROME; GDHS


Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

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 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 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 Parkinsonism

Symptoms // Phenotype % cases
Bradykinesia Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of movement Dysarthria Parkinsonism with favorable response to dopaminergic medication Tremor Mental deterioration Cognitive impairment Global developmental delay Resting tremor Hearing impairment Generalized hypotonia

Rare Symptoms - Less than 30% cases


Abnormality of extrapyramidal motor function Hypogonadism Seizures Dementia Cerebral palsy Choreoathetosis Abnormal pyramidal sign Hypothyroidism Dyskinesia Atrophy/Degeneration affecting the brainstem Hyperkinesis Recurrent pneumonia Memory impairment Abnormality of metabolism/homeostasis Hypogonadotrophic hypogonadism Hallucinations Aspiration pneumonia Increased thyroid-stimulating hormone level Ataxia Feeding difficulties Difficulty walking Fever Abnormality of the skeletal system Cerebellar atrophy Cerebral atrophy Postural instability Cerebral cortical atrophy Limb dystonia Muscular hypotonia of the trunk Irritability Lewy bodies Morphological abnormality of the pyramidal tract Alzheimer disease Visual hallucinations Loss of consciousness Spastic paraparesis Paraparesis Neurofibrillary tangles Apraxia Muscle stiffness Supranuclear gaze palsy Delusions Laryngeal stridor Neuronal loss in central nervous system Focal dystonia Progressive alopecia Myoclonus Frequent falls Protruding tongue Hand tremor Blepharospasm Shuffling gait Torsion dystonia Syncope Progressive extrapyramidal muscular rigidity Impaired oropharyngeal swallow response Depressivity Ophthalmoplegia Confusion Falls Gliosis Senile plaques Respiratory insufficiency Vertical supranuclear gaze palsy Hypertonia Progressive cerebellar ataxia Aspiration Dysdiadochokinesis Personality changes Impulsivity Brisk reflexes Loss of speech Oligomenorrhea Inappropriate behavior Chorioretinal dystrophy Flexion contracture Absent speech Unsteady gait Constipation Gastroesophageal reflux Abnormality of the eye Abnormality of eye movement Involuntary movements Delayed gross motor development Hypokinesia Limb hypertonia Hypomimic face Orofacial dyskinesia Oculogyric crisis Ocular flutter Abnormal cerebellum morphology Dysmetria Fluctuations in consciousness Respiratory tract infection Muscular hypotonia Motor delay Skeletal muscle atrophy Ventricular septal defect Progressive extrapyramidal movement disorder Respiratory distress Atrial septal defect Recurrent respiratory infections Respiratory failure Gait ataxia Apnea Abnormal cardiac septum morphology Infertility Sleep disturbance Asthma Abnormal lung morphology Infantile muscular hypotonia Neonatal respiratory distress Athetosis Interstitial pulmonary abnormality Abnormality of the thyroid gland Congenital hypothyroidism Compensated hypothyroidism Thyroid dysgenesis Aggressive behavior Hypoplasia of the fallopian tube Sparse eyebrow Decreased serum insulin-like growth factor 1 Episodic fever Leukodystrophy Leukoencephalopathy Poor head control Encephalitis Systemic lupus erythematosus Spastic diplegia Petechiae Congenital glaucoma Prolonged neonatal jaundice Basal ganglia calcification Progressive encephalopathy Postnatal microcephaly Acrocyanosis Diffuse cerebral atrophy Vegetative state Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Progressive microcephaly Intellectual disability, profound Intellectual disability Agenesis of corpus callosum Microcephaly Nystagmus Strabismus Spasticity Hepatomegaly Splenomegaly Dilatation Recurrent infections Thrombocytopenia Encephalopathy Glaucoma Spastic tetraplegia Hepatosplenomegaly Elevated hepatic transaminase Feeding difficulties in infancy Skin rash Severe global developmental delay Abnormality of the cerebral white matter Tetraplegia Brain atrophy Peripheral demyelination Cerebral calcification Hepatitis Increased CSF interferon alpha Scoliosis Streak ovary Hyperlipidemia Amenorrhea Dehydration Bilateral sensorineural hearing impairment Psychosis Fine hair Myocardial infarction Primary amenorrhea Sparse scalp hair Hypergonadotropic hypogonadism Purpura Premature ovarian insufficiency Dental malocclusion Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplasia of the uterus Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Heart block Anodontia Decreased serum testosterone level Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Decreased testicular size Prominent nose Hypertelorism Alopecia Sensorineural hearing impairment High palate Delayed speech and language development Peripheral neuropathy Hyperreflexia Downslanted palpebral fissures Gait disturbance Frontal bossing Diarrhea Intellectual disability, mild Babinski sign Diabetes mellitus Triangular face Micropenis High forehead Camptodactyly Protruding ear Sparse hair Prominent nasal bridge Arthrogryposis multiplex congenita Hypotrichosis Delayed puberty Sensory neuropathy Polyneuropathy Abnormality of carboxylic acid metabolism



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