Arthritis, and Myoclonus

Diseases related with Arthritis and Myoclonus

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


Top matches:

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 MYOSTATIN-RELATED MUSCLE HYPERTROPHY


general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Low 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 PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

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

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

Top 5 symptoms//phenotypes associated to Arthritis and Myoclonus

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hyperreflexia Hypertension Hearing impairment Scoliosis Rigidity Motor delay Obsessive-compulsive behavior Irritability Fatigue Rheumatoid arthritis Spasticity Focal dystonia Bradykinesia Abnormality of extrapyramidal motor function Abnormality of movement Parkinsonism Abnormality of eye movement Anxiety Anemia Behavioral abnormality Gait ataxia Dysphagia Cognitive impairment Gout

Rare Symptoms - Less than 30% cases


Growth delay Sensorineural hearing impairment Abnormality of the eye Renal insufficiency Short stature Hypertonia Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Limb dystonia Generalized dystonia Horizontal nystagmus Pes cavus Talipes equinovarus Hypothyroidism Testicular atrophy Sleep disturbance Anorexia Hematuria Babinski sign Torticollis Postural tremor Brisk reflexes Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Nystagmus Global developmental delay Cerebral palsy Chorea Clumsiness Gait disturbance Abnormal cerebellum morphology Progressive neurologic deterioration Cerebellar atrophy Dysarthria Delayed speech and language development Involuntary movements Mental deterioration Aggressive behavior Dementia Chronic pancreatitis Kinetic tremor Tubular atrophy Pancreatic cysts Generalized hypotonia Excessive purine production Renal corticomedullary cysts Tubular basement membrane disintegration Nephronophthisis Fever Headache Abnormality of the nervous system Abnormality of the liver Peripheral demyelination Hepatitis Aortic regurgitation Hyperuricosuria Arachnoid cyst Retinal degeneration Pancreatitis Distal muscle weakness Puberty and gonadal disorders Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Muscle weakness Peripheral neuropathy Myopathy Areflexia Hyporeflexia Abnormality of the foot Renal cyst Distal amyotrophy Hoarse voice Mildly elevated creatine phosphokinase Progressive peripheral neuropathy Vocal cord paresis Bladder stones Cardiomyopathy Abnormality of the kidney Dilated cardiomyopathy Stage 5 chronic kidney disease CNS demyelination Dysdiadochokinesis Facial grimacing Homocystinuria Flexion contracture Vascular calcification Hip dislocation Dysphonia Spastic diplegia Clinodactyly of the 5th finger Clinodactyly Gaze-evoked nystagmus Resting tremor Intellectual disability, mild Vomiting Pain Paraplegia Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Infantile encephalopathy Muscular hypotonia Obsessive-compulsive trait Confusion Spastic paraplegia Hypertyrosinemia Oral-pharyngeal dysphagia Hypermethioninemia Halitosis Fixed facial expression Dyslexia Megaloblastic anemia Self-mutilation Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Self-injurious behavior Abnormal pyramidal sign Finger clinodactyly Spastic gait Stereotypy Nephrolithiasis Recurrent urinary tract infections Choreoathetosis Nephropathy Encephalopathy Difficulty walking Hyperlordosis Biliary tract obstruction Protuberant abdomen Erlenmeyer flask deformity of the femurs Splenomegaly Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Skeletal muscle hypertrophy Failure to thrive Strabismus Hepatomegaly Myopia Diarrhea Congestive heart failure Kyphosis Dilated fourth ventricle Thrombocytopenia Arrhythmia Delayed skeletal maturation Recurrent respiratory infections Osteoporosis Abdominal pain Dyspnea Osteopenia Hepatosplenomegaly EEG abnormality Proteinuria Corneal opacity Neurological speech impairment Paranoia Chronic bronchitis Lymphadenopathy Generalized-onset seizure Ventriculomegaly Diabetes mellitus Hyperactivity Weight loss Cough Abnormality of the cerebral white matter Infertility Falls Neurodegeneration Progressive cerebellar ataxia Gliosis Brain atrophy Neuronal loss in central nervous system Type II diabetes mellitus Head tremor Broad-based gait Schizophrenia Hyperkinesis Incoordination Slurred speech Personality changes Akinesia Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Delayed puberty Abnormality of skin pigmentation Orthopnea Supranuclear gaze palsy Abnormality of coagulation Petechiae Pericardial effusion Interstitial pulmonary abnormality Pathologic fracture Exertional dyspnea Aseptic necrosis Gingival bleeding Hepatocellular carcinoma Bipolar affective disorder Increased serum ferritin Edema of the lower limbs Vertebral compression fractures Multiple myeloma Osteomyelitis Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Periorbital edema Esodeviation Hypersplenism Fractures of the long bones Spontaneous hematomas Abnormality of bone marrow cell morphology Flank pain Arthralgia of the hip Abnormal platelet function Increased antibody level in blood Menorrhagia Cirrhosis Decreased body weight Bruising susceptibility Ascites Abdominal distention Abnormal bleeding Generalized myoclonic seizures Syncope Cyanosis Abnormality of the cardiovascular system Apraxia Pancytopenia Pulmonary arterial hypertension Epistaxis Osteoarthritis Hepatic fibrosis Leukocytosis Bone pain Increased bone mineral density Meningitis Spastic paraparesis Osteolysis Oculomotor apraxia Leukopenia Reduced bone mineral density Increased susceptibility to fractures Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Podagra



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