Arthritis, and Ophthalmoplegia

Diseases related with Arthritis and Ophthalmoplegia

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


Top matches:

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


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

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Other less relevant matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

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 CONGENITAL PTOSIS


Congenital ptosis is characterized by superior eyelid drop present at birth.

Related symptoms:

  • Ptosis
  • Blepharophimosis
  • Ophthalmoplegia
  • External ophthalmoplegia
  • Congenital ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL PTOSIS

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 ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Ophthalmoplegia

Symptoms // Phenotype % cases
Hearing impairment Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Paraplegia Fatigue Ataxia Hyperreflexia Pes cavus Impaired vibration sensation in the lower limbs Talipes equinovarus Intellectual disability Hypothyroidism Babinski sign Scoliosis Headache Peripheral neuropathy Fever

Rare Symptoms - Less than 30% cases


Progressive flexion contractures Brisk reflexes Lower limb hyperreflexia Spasticity Strabismus Limb dystonia Generalized dystonia Focal dystonia Skeletal dysplasia Decreased CSF homovanillic acid Optic atrophy Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Gait disturbance Hypertonia Ophthalmoparesis Anorexia Joint stiffness Transient hyperphenylalaninemia Obsessive-compulsive behavior Postural tremor Rigidity Tremor Dystonia Hyperlordosis Stroke Pain Short stature Gait ataxia Anxiety Rheumatoid arthritis Sleep disturbance Parkinsonism Bradykinesia Abnormality of extrapyramidal motor function Horizontal nystagmus Torticollis Spastic paraplegia Arthralgia Abnormality of epiphysis morphology Renal insufficiency Abdominal pain Papule Elevated erythrocyte sedimentation rate Visual impairment Abnormality of the liver Vasculitis Ptosis Congenital ptosis Generalized limb muscle atrophy Anemia Abnormal aortic morphology Generalized osteosclerosis Generalized hypopigmentation Abnormal cortical bone morphology Blepharophimosis Atypical scarring of skin Cutaneous finger syndactyly Scleroderma Multiple lipomas Hyperostosis Flat occiput External ophthalmoplegia Abnormal bone structure Halitosis Peripheral demyelination Growth delay Cognitive impairment Complete duplication of the distal phalanges of the hand Abnormality of the nervous system Abnormality of the eye Abnormality of eye movement Diffuse skin atrophy Connective tissue nevi Hepatitis Hypermethioninemia Aortic regurgitation Dysdiadochokinesis Gout CNS demyelination Homocystinuria Hypertyrosinemia Osteopoikilosis Hoarse voice Hemangioma Lymphedema Bone pain Parkinsonism with favorable response to dopaminergic medication Spastic diplegia Myotonia Gaze-evoked nystagmus Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Oromandibular dystonia Cerebral palsy Writer's cramp EMG abnormality Axial dystonia Chest pain Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Dysphagia Dysphonia Short thorax Muscle cramps Flexion contracture Subcutaneous nodule Abnormality of the metaphysis Nevus Recurrent fractures Palmoplantar keratoderma Craniosynostosis Abnormality of the dentition Skeletal muscle atrophy Motor delay Abnormal cerebellum morphology Skeletal muscle hypertrophy Behavioral abnormality Encephalopathy Difficulty walking Irritability Abnormal pyramidal sign Abnormality of movement Confusion Involuntary movements Skin rash Coxa vara Weight loss Central retinal artery occlusion Hepatosplenomegaly Muscle weakness Dilatation Edema Blindness Visual loss Arrhythmia Alopecia Hyperhidrosis Conductive hearing impairment Lupus anticoagulant Cough Paresthesia Vertigo Hepatic failure Hematuria Sudden cardiac death Optic disc pallor Epistaxis Diplopia Skin ulcer Meningitis Retinal arterial occlusion Pure red cell aplasia Visual field defect Cutis marmorata Elevated hepatic transaminase Lymphadenopathy Decreased antibody level in blood Pancytopenia Hemiparesis Foot dorsiflexor weakness Purpura Leukopenia Ischemic stroke Hemiplegia Cerebral hemorrhage Panniculitis Leukocytosis Agitation Combined immunodeficiency Aphasia Thrombocytosis Raynaud phenomenon Hypercoagulability Immune dysregulation Granulocytopenia Erythema nodosum Antiphospholipid antibody positivity Diabetes insipidus Pericarditis Osteoarthritis Cataract Progressive spastic paraplegia Impaired distal vibration sensation Impaired temperature sensation Impaired distal proprioception Demyelinating motor neuropathy Demyelinating sensory neuropathy Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Hypertelorism Cleft palate Myopia Spastic gait Hepatomegaly Short neck Kyphosis Glaucoma Broad forehead Platyspondyly Narrow chest Micromelia Flat face Retinal detachment Limitation of joint mobility Urinary urgency Lower limb spasticity Gangrene Glossitis Aortic dissection Cerebral ischemia Arterial thrombosis Abnormal thrombocyte morphology Recurrent pharyngitis Abnormality of the pleura Mediastinal lymphadenopathy Amaurosis fugax Abdominal aortic aneurysm Impaired mastication Gastrointestinal infarctions Arteritis Urinary incontinence Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Retinal arteritis Jaw claudication Immunodeficiency Splenomegaly Dementia Proximal muscle weakness Distal muscle weakness Limb muscle weakness Lower limb muscle weakness Sensory neuropathy Abnormal axial skeleton morphology



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