Hyperreflexia, and Arthritis

Diseases related with Hyperreflexia and Arthritis

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

Top matches:

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

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

Other less relevant matches:

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

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

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

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

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low 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

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Arthritis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anxiety Growth delay Cognitive impairment Dystonia Gait disturbance Aggressive behavior Rheumatoid arthritis Delayed speech and language development Scoliosis Ataxia Seizures Motor delay Irritability Behavioral abnormality Neoplasm Sleep disturbance Pes cavus Pain Anemia Depressivity Dysarthria Gout Dysphagia Gait ataxia Intellectual disability, mild Spasticity Hypothyroidism Impaired vibration sensation in the lower limbs Focal dystonia Headache Abnormality of extrapyramidal motor function Obsessive-compulsive behavior Global developmental delay Weight loss Short stature Fatigue Confusion Nystagmus Generalized hypotonia Tremor Bradykinesia

Rare Symptoms - Less than 30% cases

Abnormal cerebellum morphology Involuntary movements Abnormality of movement Hyperlordosis Cerebral palsy Abnormal pyramidal sign Hypertonia Strabismus Muscular hypotonia Abnormality of the skeletal system Dilatation Joint stiffness Malabsorption Recurrent otitis media Otitis media Joint hyperflexibility Scarring Conductive hearing impairment Arthralgia Gastroesophageal reflux Brachydactyly Flexion contracture Visual loss Cough Hyperactivity Testicular atrophy Finger clinodactyly Recurrent urinary tract infections Clumsiness Chorea Clinodactyly of the 5th finger Clinodactyly Vomiting Renal insufficiency Ventriculomegaly Paresis of extensor muscles of the big toe Torticollis Peripheral neuropathy Dementia Spastic paraplegia Paraplegia Spastic gait Abnormality of the substantia nigra Fever Abnormality of the nervous system Abnormality of eye movement Anorexia Aortic regurgitation Talipes equinovarus Parkinsonism Horizontal nystagmus Iritis Lower limb hyperreflexia Transient hyperphenylalaninemia Limb dystonia Progressive flexion contractures Brisk reflexes Postural tremor Generalized dystonia Decreased CSF homovanillic acid Aseptic necrosis Pulmonary infiltrates Congenital posterior urethral valve Pustule Epididymal cyst Enlarged naris Uveitis Preauricular pit Curved fingers Gangrene Hemoptysis Pericarditis Keratoconjunctivitis sicca Broad fingertip Glomerulopathy Blurred vision Epiphora Inflammation of the large intestine Acne Pulmonary embolism Cerebral ischemia Raynaud phenomenon Thrombophlebitis Retrobulbar optic neuritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Pleuritis Myositis Oral ulcer Endocarditis Alopecia areata Stomatitis Pseudoarthrosis Recurrent aphthous stomatitis Congenital pseudoarthrosis of the clavicle Arterial thrombosis Abnormal myocardium morphology Pleural effusion Abnormal soft palate morphology Venous thrombosis Encephalitis Splenomegaly Developmental regression Myalgia Photophobia Dyspnea Reduced visual acuity Glaucoma Abdominal pain Alopecia Cone-shaped epiphyses of the phalanges of the hand Diarrhea Lipoma Blindness Cataract Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Erythema Retinopathy Increased intracranial pressure Abnormal blistering of the skin Superficial thrombophlebitis Cranial nerve paralysis Pancreatitis Vasculitis Meningitis Subcutaneous nodule Mitral regurgitation Hemiparesis Myocardial infarction Memory impairment Autoimmunity Gastrointestinal hemorrhage Migraine Chest pain Vertigo Lymphadenopathy Paresthesia Generalized cerebral atrophy/hypoplasia Nausea and vomiting Papule Stroke Orchitis Epididymitis Panuveitis Microdontia Long eyelashes Broad thumb Short palpebral fissure Tethered cord Low posterior hairline Interphalangeal joint contracture of finger Apraxia Coarctation of aorta Hypoplasia of penis Underdeveloped nasal alae Short thumb Dental malocclusion Prominent nose Stiff neck Broad nasal tip Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Spinal dysraphism Broad columella Generalized hirsutism Hirsutism Proportionate short stature Clubbing Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the hand Abnormality of the fingernails High pitched voice Celiac disease Short clavicles Nephrocalcinosis Short columella Abnormality of the clavicle Short attention span Enuresis Villous atrophy 11 pairs of ribs Sprengel anomaly Enlarged joints Speech apraxia Hyperextensibility of the finger joints Cervical cord compression Bulbous nose Genital ulcers Short neck Posteriorly rotated ears Constipation Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Abnormality of the dentition Atrial septal defect Intrauterine growth retardation Mandibular prognathia Wide nasal bridge Low-set ears Cryptorchidism Abnormal facial shape Micrognathia Microcephaly Hypopyon Decreased level of D-mannose in urine Persistent left superior vena cava Impulsivity Upslanted palpebral fissure Kyphoscoliosis Thin vermilion border Short philtrum Short upper lip Expressive language delay Smooth philtrum Varicocele Poor speech Hypermetropia Small for gestational age Neurological speech impairment Prominent nasal bridge Camptodactyly of finger Umbilical hernia Craniosynostosis Wide mouth Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Telecanthus Joint laxity Hydronephrosis Deeply set eye Thin upper lip vermilion High palate Abnormal form of the vertebral bodies Hypopnea Podagra Progressive cerebellar ataxia Neurodegeneration Falls Infertility Abnormality of the cerebral white matter Mental deterioration Diabetes mellitus Myoclonus Cerebellar atrophy Bladder stones Brain atrophy Excessive purine production Hyperuricosuria Facial grimacing Dyslexia Megaloblastic anemia Self-mutilation Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Gliosis Neuronal loss in central nervous system Self-injurious behavior Bronchitis Abnormal involuntary eye movements Mania Paranoia Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Muscle fibrillation Generalized-onset seizure Hypokinesia Akinesia Personality changes Slurred speech Incoordination Hyperkinesis Schizophrenia Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Oral-pharyngeal dysphagia Stereotypy Suicidal ideation Impaired distal proprioception Dysdiadochokinesis Hepatitis Peripheral demyelination Abnormality of the liver Abnormality of the eye Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired temperature sensation Homocystinuria Impaired distal vibration sensation Progressive spastic paraplegia Urinary urgency Lower limb spasticity Urinary incontinence Sensory neuropathy Lower limb muscle weakness Limb muscle weakness Distal muscle weakness Proximal muscle weakness CNS demyelination Hypertyrosinemia Nephrolithiasis Oromandibular dystonia Choreoathetosis Nephropathy Hematuria Hip dislocation Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Parkinsonism with favorable response to dopaminergic medication Hypermethioninemia Torsion dystonia Upper motor neuron dysfunction Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Dysphonia Difficulty walking Encephalopathy Halitosis Neuronal loss in basal ganglia Frequent temper tantrums Obstructive lung disease Back pain Myeloid leukemia Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Genu varum Neuroblastoma Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Disproportionate short stature Hip contracture Abnormal lung morphology Cor pulmonale Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Abnormality of femur morphology Spinal canal stenosis Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Rhizomelia Abnormality of the metaphysis Oral motor hypotonia Cerebral cortical atrophy Arnold-Chiari type I malformation Decreased nerve conduction velocity Recurrent upper respiratory tract infections Drooling Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Neonatal hypotonia Pneumonia Pancreatic fibrosis Elevated serum creatine phosphokinase Hyporeflexia Areflexia Absent speech Recurrent infections Immunodeficiency Respiratory insufficiency Optic atrophy Visual impairment Sensorineural hearing impairment Low frustration tolerance Muscle mounding Osteoarthritis Cleft lip Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Overgrowth Lymphoma Oral cleft Micromelia Leukemia Apnea Skeletal dysplasia Increased urinary hypoxanthine Severe short stature Obesity Midface retrusion Malar flattening Hydrocephalus Frontal bossing Macrocephaly Depressed nasal bridge Spinal cord posterior columns myelin loss Parietal cortical atrophy Mesocardia


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