Arthritis, and Parkinsonism

Diseases related with Arthritis and Parkinsonism

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


Top matches:

Medium match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Medium match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

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Other less relevant matches:

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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 DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA 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

Top 5 symptoms//phenotypes associated to Arthritis and Parkinsonism

Symptoms // Phenotype % cases
Rigidity Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Bradykinesia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of extrapyramidal motor function Anemia Depressivity Scoliosis Hyperreflexia Hypertension Seizures Babinski sign Global developmental delay Dystonia Gait ataxia Ataxia Neuronal loss in central nervous system Hematuria Behavioral abnormality Motor delay Dementia Gait disturbance Focal dystonia Generalized hypotonia Irritability Cognitive impairment Anxiety Fatigue Rheumatoid arthritis Obsessive-compulsive behavior Hearing impairment

Rare Symptoms - Less than 30% cases


Arrhythmia Muscular hypotonia Thrombocytopenia Dysarthria Failure to thrive Growth delay Myoclonus Dysphagia Short stature Flexion contracture Delayed speech and language development Pes cavus Cerebellar atrophy Epistaxis Clubbing Spastic paraparesis Ventriculomegaly Slurred speech Anorexia Joint hypermobility Progressive neurologic deterioration Pulmonary arterial hypertension Weight loss Pancytopenia Broad-based gait Abnormality of skin pigmentation Abnormality of eye movement Mental deterioration Ankle clonus Proteinuria Renal insufficiency Congestive heart failure Decreased CSF homovanillic acid Testicular atrophy Talipes equinovarus Hypertonia Nystagmus Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Hypothyroidism Transient hyperphenylalaninemia Progressive flexion contractures Megaloblastic anemia Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Brisk reflexes Postural tremor Torticollis Horizontal nystagmus Difficulty walking Sleep disturbance Abnormality of movement Cerebral palsy Aggressive behavior Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Hip dislocation Nephropathy Hyperactive deep tendon reflexes Resting tremor Recurrent urinary tract infections Clumsiness Chorea Involuntary movements Abnormal cerebellum morphology Confusion Paranoia Hypokinesia Microcephaly Akinesia Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Muscle weakness Feeding difficulties Low-set ears Muscle fibrillation Dilated fourth ventricle Bronchitis Cerebellar vermis atrophy Cataract Restlessness Upper limb undergrowth Head tremor Abnormal facial shape Chronic bronchitis Mania Abnormal involuntary eye movements Facial grimacing Personality changes Hyperuricemia Hyperuricosuria Respiratory insufficiency Excessive purine production Dyslexia Bladder stones Gout Podagra Self-mutilation Diabetes mellitus Hyperactivity Cough Incoordination Abnormality of the cerebral white matter Infertility Falls Neurodegeneration Progressive cerebellar ataxia Gliosis Brain atrophy Generalized-onset seizure Type II diabetes mellitus Schizophrenia Hyperkinesis Visual impairment Disproportionate tall stature Hydrocephalus Decreased adenosylcobalamin Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Hyperhomocystinemia Thyroglossal cyst Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Cystathioninemia Dyskinesia Right ventricular failure Absent speech Hypomimic face Polycythemia Postnatal microcephaly Abnormality of the liver Developmental regression Muscular hypotonia of the trunk Cerebral atrophy Paraparesis Dilated third ventricle Scissor gait Cogwheel rigidity Dilation of lateral ventricles Diffuse cerebral atrophy Alzheimer disease Mask-like facies Hemolytic-uremic syndrome Gastritis Intellectual disability, severe Congenital cataract Retinal degeneration Paresthesia Unsteady gait Smooth philtrum Lower limb muscle weakness Malabsorption Lethargy Hemolytic anemia Retinopathy Feeding difficulties in infancy Macrotia High forehead Acidosis Reduced visual acuity Cerebral cortical atrophy Long face Hepatic steatosis Myelopathy Hemiplegia Homocystinuria Methylmalonic aciduria Cor pulmonale Thromboembolism Athetosis Apathy Ectopia lentis Atherosclerosis Metabolic acidosis Abnormality of retinal pigmentation Psychosis Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Neutropenia Opisthotonus Gastrointestinal hemorrhage Proximal placement of thumb Meningitis Bruising susceptibility Ascites Abdominal distention Abnormal bleeding Generalized myoclonic seizures Syncope Cyanosis Abnormality of the cardiovascular system Apraxia Osteoarthritis Decreased body weight Hepatic fibrosis Bone pain Increased bone mineral density Osteolysis Lymphadenopathy Oculomotor apraxia Leukopenia Reduced bone mineral density Increased susceptibility to fractures Cholelithiasis Portal hypertension Abnormality of the thorax Leukocytosis Menorrhagia Osteomyelitis Increased antibody level in blood Abnormality of coagulation Petechiae Pericardial effusion Cirrhosis Delayed puberty Pathologic fracture Fixed facial expression Encephalopathy Hyperlordosis Abnormal pyramidal sign Spastic paraplegia Paraplegia Dysphonia Spastic diplegia Gaze-evoked nystagmus Upper motor neuron dysfunction Torsion dystonia Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Strabismus Neurological speech impairment Abdominal pain Corneal opacity Abnormality of the eye EEG abnormality Hepatosplenomegaly Osteopenia Dyspnea Osteoporosis Hepatomegaly Recurrent respiratory infections Delayed skeletal maturation Kyphosis Splenomegaly Diarrhea Myopia Interstitial pulmonary abnormality Exertional dyspnea Oral-pharyngeal dysphagia Cerebral arteriovenous malformation Mitral valve prolapse Hemiparesis Mitral regurgitation Telangiectasia Hemangioma Aortic aneurysm Colon cancer Iron deficiency anemia Subarachnoid hemorrhage Aortic dissection Hematochezia Arteriovenous malformation Cavernous hemangioma Hamartomatous polyposis Gastrointestinal carcinoma Visual loss Clinodactyly of the 5th finger Self-injurious behavior Finger clinodactyly Spastic gait Stereotypy Nephrolithiasis Choreoathetosis Clinodactyly Pulmonary arteriovenous malformation Intellectual disability, mild Vomiting Pain Juvenile gastrointestinal polyposis Intrapulmonary shunt Hepatic arteriovenous malformation Stroke Dilatation Aseptic necrosis Esodeviation Protuberant abdomen Gingival bleeding Hepatocellular carcinoma Bipolar affective disorder Increased serum ferritin Edema of the lower limbs Vertebral compression fractures Supranuclear gaze palsy Multiple myeloma Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Periorbital edema Hypersplenism Neoplasm Vascular calcification Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Erlenmeyer flask deformity of the femurs Fractures of the long bones Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Limb joint contracture



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