Hyperreflexia, and Rheumatoid arthritis

Diseases related with Hyperreflexia and Rheumatoid arthritis

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

Top matches:

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

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

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

Other less relevant matches:

Medium match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

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

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

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Irritability Dystonia Tremor Spasticity Nystagmus Hearing impairment Behavioral abnormality Rigidity Babinski sign Visual impairment Headache Gait disturbance Depressivity Fatigue Paraplegia Gout Visual loss Renal insufficiency Motor delay Hypertension Pain Scoliosis Cognitive impairment Dysarthria Dysphagia Dementia Aggressive behavior Pes cavus Weight loss Gait ataxia Obsessive-compulsive behavior Impaired vibration sensation in the lower limbs Focal dystonia Anxiety Abnormality of extrapyramidal motor function Bradykinesia Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Urinary incontinence Chorea Neuronal loss in central nervous system Generalized hypotonia Abnormality of eye movement Falls Cough Areflexia Testicular atrophy Intellectual disability, mild Peripheral demyelination Muscular hypotonia Gliosis Anterior uveitis Clumsiness Splenomegaly Diarrhea Aortic regurgitation Anorexia Vasculitis Hemiparesis Spastic gait Vomiting Migraine Lymphadenopathy Paresthesia Malabsorption Uveitis Nephropathy Autoimmunity Pleural effusion Myalgia Arthralgia Abdominal pain Global developmental delay Pericarditis Growth delay Hyporeflexia Decreased CSF homovanillic acid Cerebral palsy Involuntary movements Abnormal cerebellum morphology Confusion Brisk reflexes Generalized dystonia Lower limb hyperreflexia Abnormality of movement Transient hyperphenylalaninemia Abnormality of the substantia nigra Spastic paraplegia Postural tremor Abnormal pyramidal sign Torticollis Sleep disturbance Hypertonia Talipes equinovarus Hypothyroidism Limb dystonia Progressive flexion contractures Parkinsonism Horizontal nystagmus Delayed speech and language development Paresis of extensor muscles of the big toe Anemia Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Amyloid deposition in the vitreous humor Strabismus Cardiac amyloidosis Neonatal hypotonia Proximal muscle weakness Distal muscle weakness Limb muscle weakness Lower limb muscle weakness Sensory neuropathy Lower limb spasticity Urinary urgency Progressive spastic paraplegia Impaired distal vibration sensation Psychomotor deterioration Stroke-like episode Urinary retention Cerebral hemorrhage Constipation Facial palsy Peripheral axonal neuropathy Polyneuropathy Coma Hypotension Bilateral sensorineural hearing impairment Cardiomegaly Hallucinations Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Atrioventricular block Cachexia Impotence Sensory ataxia Malnutrition Aphasia Axonal degeneration Orthostatic hypotension Decreased number of peripheral myelinated nerve fibers Amyloidosis Syringomyelia Increased CSF protein Restrictive cardiomyopathy Multiple myeloma Impaired distal proprioception Constrictive median neuropathy Myelopathy Abnormal renal physiology Impaired temperature sensation Abnormal brainstem MRI signal intensity Demyelinating motor neuropathy Hyperuricosuria Decreased nerve conduction velocity Nephrolithiasis Stereotypy Recurrent upper respiratory tract infections Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Athetosis Opisthotonus Hyperuricemia Self-mutilation Megaloblastic anemia Dyslexia Facial grimacing Excessive purine production Choreoathetosis Drooling Bladder stones Podagra Optic atrophy Respiratory insufficiency Immunodeficiency Sensorimotor neuropathy Recurrent infections Absent speech Progressive muscle weakness Elevated serum creatine phosphokinase Progressive visual loss Pneumonia Tetraplegia Recurrent urinary tract infections Hematuria Demyelinating sensory neuropathy Halitosis Elevated C-reactive protein level Impaired distal tactile sensation Cerebral cortical atrophy Juvenile rheumatoid arthritis Joint swelling Abnormality of the nervous system Abnormality of the eye Abnormality of the liver Hepatitis Dysdiadochokinesis CNS demyelination Homocystinuria Hypertyrosinemia Hypermethioninemia Elevated erythrocyte sedimentation rate Hip dislocation Skin rash Short stature Hepatosplenomegaly Hepatomegaly Spinal cord posterior columns myelin loss Parietal cortical atrophy Increased urinary hypoxanthine Muscle mounding Pancreatic fibrosis Low frustration tolerance Flexion contracture Arnold-Chiari type I malformation Clinodactyly Clinodactyly of the 5th finger Finger clinodactyly Glomerulopathy Arrhythmia Dilated fourth ventricle Hyperkinesis Incoordination Slurred speech Personality changes Akinesia Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Head tremor Chronic bronchitis Paranoia Broad-based gait Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Neoplasm Cataract Blindness Dilatation Alopecia Glaucoma Reduced visual acuity Schizophrenia Progressive neurologic deterioration Photophobia Axial dystonia Encephalopathy Difficulty walking Hyperlordosis Dysphonia Spastic diplegia Gaze-evoked nystagmus Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Infantile encephalopathy Type II diabetes mellitus Obsessive-compulsive trait Fixed facial expression Ventriculomegaly Cerebellar atrophy Myoclonus Diabetes mellitus Hyperactivity Mental deterioration Abnormality of the cerebral white matter Infertility Neurodegeneration Progressive cerebellar ataxia Brain atrophy Generalized-onset seizure Dyspnea Developmental regression Congestive heart failure Optic neuritis Cerebral ischemia Abnormal myocardium morphology Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Alopecia areata Endocarditis Oral ulcer Pleuritis Thrombophlebitis Erythema nodosum Immunologic hypersensitivity Chorioretinitis Posterior uveitis Raynaud phenomenon Iridocyclitis Increased inflammatory response Iritis Retrobulbar optic neuritis Orchitis Superficial thrombophlebitis Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Hypopyon Muscle weakness Hydrocephalus Cardiomyopathy Myositis Gangrene Erythema Subcutaneous nodule Joint stiffness Scarring Retinopathy Stroke Papule Nausea and vomiting Vertigo Chest pain Gastrointestinal hemorrhage Memory impairment Abnormal blistering of the skin Myocardial infarction Mitral regurgitation Meningitis Pulmonary infiltrates Pancreatitis Cranial nerve paralysis Venous thrombosis Increased intracranial pressure Encephalitis Acne Inflammation of the large intestine Epiphora Blurred vision Keratoconjunctivitis sicca Hemoptysis Pulmonary embolism Aseptic necrosis Pustule Serositis


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