Arthritis, and Dystonia

Diseases related with Arthritis and Dystonia

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


Top matches:

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low 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

Low 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

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Other less relevant matches:

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 WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match LESCH-NYHAN SYNDROME


Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.

LESCH-NYHAN SYNDROME Is also known as hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv|hypoxanthine guanine phosphoribosyltransferase complete deficiency|hprt complete deficiency|hprt deficiency grade iv

Related symptoms:

  • Spasticity
  • Anemia
  • Behavioral abnormality
  • Intellectual disability, mild
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about LESCH-NYHAN SYNDROME

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6


Related symptoms:

  • Arthralgia
  • Difficulty walking
  • Osteoarthritis
  • Epiphyseal dysplasia
  • Irregular vertebral endplates


SOURCES: OMIM MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 6; EDM6

Top 5 symptoms//phenotypes associated to Arthritis and Dystonia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Anxiety Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Rigidity Tremor Hyperreflexia Gait ataxia Anemia Cognitive impairment Scoliosis Dysarthria Irritability Limb dystonia Confusion Global developmental delay Abnormality of extrapyramidal motor function Rheumatoid arthritis Obsessive-compulsive behavior Dysphagia Focal dystonia Difficulty walking Clumsiness Abnormality of movement Involuntary movements Gait disturbance Aggressive behavior Delayed speech and language development Intellectual disability, mild Motor delay Bradykinesia Abnormality of the cerebral white matter Nystagmus Hearing impairment Progressive neurologic deterioration Ataxia Hypertension Growth delay Fatigue Babinski sign Gout Talipes equinovarus

Rare Symptoms - Less than 30% cases


Pain Psychosis Muscular hypotonia Hepatosplenomegaly Arthralgia Osteoarthritis Vomiting Splenomegaly Hepatomegaly Renal insufficiency Bronchitis Personality changes Schizophrenia Cerebral atrophy Hematuria Type II diabetes mellitus Seizures Mental deterioration Weight loss Myoclonus Dementia Cerebellar atrophy Ventriculomegaly Testicular atrophy Gliosis Oral-pharyngeal dysphagia Neurodegeneration Spastic gait Nephrolithiasis Progressive cerebellar ataxia Chorea Infertility Generalized hypotonia Hyperuricemia Lower limb hyperreflexia Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Transient hyperphenylalaninemia Hypertonia Decreased CSF homovanillic acid Abnormality of the nervous system Pes cavus Progressive flexion contractures Hypothyroidism Abnormal cerebellum morphology Cerebral palsy Generalized dystonia Sleep disturbance Abnormality of the liver Parkinsonism Abnormality of eye movement Peripheral demyelination Hepatitis Horizontal nystagmus Torticollis Postural tremor Impaired vibration sensation in the lower limbs Brisk reflexes Skeletal dysplasia Coarse facial features Osteopenia Umbilical hernia Respiratory tract infection Hypoplastic inferior ilia Pectus carinatum Thick eyebrow Hip dysplasia Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Macroglossia Highly arched eyebrow Retinal degeneration Broad forehead Arthralgia of the hip Dysmetria Genu valgum Abnormality of the foot Hypermetropia Neurological speech impairment Kyphoscoliosis Corneal opacity Prominent forehead Macrotia Sensorineural hearing impairment Macrocephaly Skeletal muscle atrophy Myopia Epicanthus Depressed nasal bridge Cataract Muscle weakness Strabismus Frontal bossing Hypertelorism Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Optic atrophy Abnormality of the skeletal system Mandibular prognathia Hernia Schmorl's node Irregular distal femoral epiphysis Pancytopenia Recurrent respiratory infections Delayed skeletal maturation Inguinal hernia Areflexia Midface retrusion Short neck Recurrent infections Immunodeficiency Malar flattening Kyphosis Abnormality of the dentition Myopathy Intellectual disability, severe Hydrocephalus Optic disc pallor Narrow palate Depressed nasal ridge Synovitis Abnormality of the gingiva Cranial hyperostosis Intellectual disability, moderate Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Abnormal cornea morphology Spinocerebellar tract disease in lower limbs Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hypocupremia Abnormal facial shape Flattened moderately deformed vertebrae Dysostosis multiplex Cerebral dysmyelination Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Abnormality of the ilium Synovial hypertrophy Retinal thinning Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Progressive joint destruction Long ear Hydrocele testis Impaired smooth pursuit Hypertrichosis Flat capital femoral epiphysis Prominent supraorbital ridges Increased intracranial pressure Irregular epiphyses Widely spaced teeth Recurrent bacterial infections Decreased pulmonary function Low anterior hairline Small epiphyses Hallucinations Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Chronic otitis media Heart murmur Delusions Neurodevelopmental delay Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Thickened calvaria Abnormality of the sternum Femoral bowing Bowel incontinence Abnormality of the knee Hemiplegia/hemiparesis Epiphyseal dysplasia Irregular vertebral endplates Open bite Bowing of the legs Flat occiput Multiple epiphyseal dysplasia Poor motor coordination Poor speech Premature osteoarthritis Excessive purine production Nephropathy Choreoathetosis Recurrent urinary tract infections Stereotypy Finger clinodactyly Self-injurious behavior Proximal placement of thumb Athetosis Opisthotonus Self-mutilation Megaloblastic anemia Dyslexia Facial grimacing Hyperuricosuria Bladder stones Clinodactyly of the 5th finger Broad-based gait Muscle fibrillation Hypokinesia Akinesia Slurred speech Incoordination Hyperkinesis Generalized-onset seizure Podagra Neuronal loss in central nervous system Brain atrophy Falls Cough Hyperactivity Diabetes mellitus Hip dislocation Clinodactyly Restlessness Spastic paraplegia Fever Headache Abnormality of the eye Anorexia Aortic regurgitation Dysdiadochokinesis CNS demyelination Homocystinuria Hypertyrosinemia Hypermethioninemia Halitosis Encephalopathy Hyperlordosis Abnormal pyramidal sign Paraplegia Flexion contracture Oromandibular dystonia Short stature Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Parkinsonism with favorable response to dopaminergic medication Dysphonia Torsion dystonia Upper motor neuron dysfunction Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Cerebellar vermis atrophy Upper limb undergrowth Abnormality of the menstrual cycle Osteomalacia Muscle stiffness Spontaneous abortion Aminoaciduria Nephrocalcinosis Leukopenia Leukoencephalopathy Drooling Abnormality of the hand Back pain Hypercalciuria Abnormality of mitochondrial metabolism Global brain atrophy Pathologic fracture Glycosuria Arthropathy Bone pain Chondrocalcinosis Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Acute hepatic failure Abnormality of blood and blood-forming tissues Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Increased body weight Decreased liver function Head tremor Frequent temper tantrums Thrombocytopenia Edema Peripheral neuropathy Failure to thrive Neoplasm Oral motor hypotonia Suicidal ideation Jaundice Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Dilated fourth ventricle Chronic bronchitis Osteoporosis Elevated hepatic transaminase Cholestasis Hepatic failure Ascites Coma Polyneuropathy Hepatic steatosis Hemolytic anemia Bruising susceptibility Joint hypermobility Proteinuria Cirrhosis Nausea Peripheral axonal neuropathy Paresthesia Nausea and vomiting Pruritus Flat distal femoral epiphysis



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