Fever, and Ophthalmoplegia

Diseases related with Fever and Ophthalmoplegia

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

Top matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Other less relevant matches:

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

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

CRIGLER-NAJJAR SYNDROME, TYPE I Is also known as crigler-najjar syndrome|hyperbilirubinemia, crigler-najjar type i|hblrcn1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE I

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

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

Top 5 symptoms//phenotypes associated to Fever and Ophthalmoplegia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Encephalopathy Hypertension Vomiting Ophthalmoparesis Pain Abdominal pain Muscle weakness Diplopia Peripheral neuropathy Optic atrophy Myalgia Irritability Facial palsy Hemiplegia Fatigue Respiratory insufficiency Nystagmus Skeletal muscle atrophy Myopathy Nausea and vomiting Depressivity Rigidity Ptosis Respiratory failure Paresthesia Dysarthria Feeding difficulties Dysphagia Generalized muscle weakness Proximal muscle weakness Hearing impairment Polyhydramnios

Rare Symptoms - Less than 30% cases

Lymphadenopathy Spasticity Vasculitis Focal impaired awareness seizure Vertigo Motor delay External ophthalmoplegia Scoliosis Elevated erythrocyte sedimentation rate Coma Apnea Malignant hyperthermia Stroke Muscle cramps Episodic ataxia Anemia Opisthotonus Cerebral palsy Pancreatitis Dilatation Postural instability Paralysis Hepatic failure Hematuria Nausea Lethargy Arthritis Abnormality of the liver Oculomotor nerve palsy Focal-onset seizure Arthrogryposis multiplex congenita Raynaud phenomenon Pure red cell aplasia EEG abnormality Cleft palate Hypertonia Hepatitis Dystonia Failure to thrive Joint stiffness Tremor Cognitive impairment Prune belly Neuroma Gastrointestinal obstruction Urethral obstruction Talipes Megacystis Hypoperistalsis Barrett esophagus Urinary retention Microcolon Pollakisuria Decreased fetal movement Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Congenital hip dislocation Limb-girdle muscular dystrophy Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Peritonitis Myopathic facies Volvulus Achalasia Chronic constipation Muscular dystrophy Delayed speech and language development Hip dislocation Flexion contracture Retinal arteritis Athetosis Prolonged neonatal jaundice Homocystinuria Infantile muscular hypotonia Biliary tract abnormality Hyperbilirubinemia Neonatal hyperbilirubinemia Unconjugated hyperbilirubinemia Arteritis Kernicterus High-pitched cry Leukodystrophy Megaduodenum Intrauterine growth retardation Clumsiness Memory impairment Jaundice Talipes equinovarus Cardiomyopathy Areflexia Kyphoscoliosis Pes planus Neonatal hypotonia Hypertrophic cardiomyopathy Hyperkinesis Mediastinal lymphadenopathy Thrombocytopenia Spinal rigidity Abdominal aortic aneurysm Arrhythmia Visual loss Renal insufficiency Blindness Edema Visual impairment Amaurosis fugax Impaired mastication Hyperhidrosis Downbeat nystagmus Saccadic smooth pursuit Rhabdomyolysis Cerebellar vermis atrophy Gaze-evoked nystagmus Vestibular dysfunction Loss of consciousness Alopecia Arthralgia Myotonia Visual field defect Recurrent pharyngitis Abnormal thrombocyte morphology Arterial thrombosis Cerebral ischemia Aortic dissection Gangrene Pericarditis Diabetes insipidus Conductive hearing impairment Meningitis Skin ulcer Anorexia Epistaxis Optic disc pallor Sudden cardiac death Cough Gastrointestinal infarctions Incoordination Centrally nucleated skeletal muscle fibers Abnormality of the pleura Ovarian neoplasm Nephroblastoma Hypercalcemia Sarcoma Cranial nerve paralysis Subcutaneous nodule Carcinoma Hydrocephalus Glossitis Neoplasm Minicore myopathy Stooped posture Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance Nemaline bodies Hyperparathyroidism Poor appetite CNS hypomyelination Abnormal cerebellum morphology Tinnitus Sleep apnea Horizontal nystagmus Intention tremor Epileptic encephalopathy Migraine Progressive cerebellar ataxia Cerebellar atrophy Renal neoplasm Hypoplasia of the corpus callosum Ventriculomegaly Internal hemorrhage Embryonal neoplasm Neoplasm of the central nervous system Teratoma Neoplasm of the liver Episodic abdominal pain Retinal arterial occlusion Disproportionate tall stature Confusion Progressive neurologic deterioration Tetraparesis Status epilepticus Generalized-onset seizure Neurodegeneration Inability to walk Abnormal pyramidal sign Mutism Muscular hypotonia of the trunk Abnormality of the nervous system Gait ataxia Babinski sign Cerebral atrophy Intellectual disability, mild Paraparesis Bilateral ptosis Single fiber EMG abnormality Growth delay Anxiety Hypoglycemia Acidosis Hyperactivity Osteoporosis Muscular hypotonia Focal motor seizures Abnormality of mitochondrial metabolism Craniofacial dystonia Acute encephalopathy Cogwheel rigidity Abnormality of the basal ganglia Morphological abnormality of the pyramidal tract Loss of speech Atrophy/Degeneration affecting the brainstem Hyperreflexia Muscle specific kinase antibody positivity Lactic acidosis Cyanosis Poor suck Systemic lupus erythematosus Easy fatigability Respiratory insufficiency due to muscle weakness Aspiration Psychosis Tapered finger Bulbar palsy Hemolytic anemia Autoimmunity Respiratory tract infection Dyspnea Respiratory distress Strabismus Rheumatoid arthritis Glycosuria Generalized hypotonia due to defect at the neuromuscular junction EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials Hyperacusis Abnormality of the thymus Type 2 muscle fiber atrophy Abnormality of the immune system Myositis Acrocyanosis Hashimoto thyroiditis Primary adrenal insufficiency Fatigable weakness Hyperthyroidism Weak cry Feeding difficulties in infancy Tetraplegia Hydroureter Anteverted nares Hydronephrosis Umbilical hernia Pneumonia Constipation Abnormality of cardiovascular system morphology Diarrhea Cryptorchidism Prominent nasal bridge Micrognathia Microcephaly Central retinal artery occlusion Lupus anticoagulant Panniculitis Antiphospholipid antibody positivity Low-set, posteriorly rotated ears Broad forehead Granulocytopenia Recurrent urinary tract infections Anonychia Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia Horseshoe kidney Aganglionic megacolon Narrow chest Interphalangeal joint contracture of finger Overgrowth Intestinal malrotation Round face Vesicoureteral reflux Abdominal distention Arachnodactyly Erythema nodosum Immune dysregulation Otitis media Ketonuria Immunodeficiency Splenomegaly Hepatomegaly Elevated plasma branched chain amino acids Increased level of hippuric acid in urine Cerebral edema Ketoacidosis Elevated hepatic transaminase Ketosis Impulsivity Growth abnormality Increased intracranial pressure Hallucinations Spastic tetraplegia Hepatosplenomegaly Skin rash Hypercoagulability Cutis marmorata Thrombocytosis Aphasia Combined immunodeficiency Agitation Leukocytosis Cerebral hemorrhage Ischemic stroke Papule Leukopenia Purpura Foot dorsiflexor weakness Hemiparesis Pancytopenia Decreased antibody level in blood Paraplegia Jaw claudication


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