Fever, and Tetraparesis

Diseases related with Fever and Tetraparesis

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

Top matches:

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

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Other less relevant matches:

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

High match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

High match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Fever and Tetraparesis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia

Common Symptoms - More than 50% cases

Spastic tetraparesis

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Tetraplegia Muscle weakness Visual impairment Respiratory distress Abnormality of the cerebral white matter Muscular hypotonia of the trunk Encephalopathy Failure to thrive Peripheral neuropathy Gait disturbance Hypertonia Paraparesis Coma Dysarthria Tremor Optic atrophy Muscular hypotonia Dysphagia Hearing impairment Developmental regression Vomiting Brain atrophy Sensory neuropathy Sensorineural hearing impairment Hepatomegaly Depressivity Microcephaly Cardiomyopathy Leukodystrophy Areflexia Pain Sensorimotor neuropathy Metabolic acidosis Behavioral abnormality Acidosis High palate Hemiplegia Respiratory insufficiency Dystonia Cerebral atrophy Babinski sign Respiratory failure Gait ataxia Micrognathia Cognitive impairment Irritability Paralysis Gliosis Abnormal pyramidal sign Peripheral demyelination Feeding difficulties Visual loss Myopathy Cerebral cortical atrophy Inability to walk Abnormal facial shape Neurodegeneration Mental deterioration

Rare Symptoms - Less than 30% cases

Opisthotonus Leukoencephalopathy Ventriculomegaly Jaundice Episodic fever Edema Spastic tetraplegia Low-set ears Polymicrogyria Lactic acidosis Cataract Severe muscular hypotonia Pancreatitis Hypertelorism Abnormality of extrapyramidal motor function Decreased nerve conduction velocity Clonus Strabismus Generalized myoclonic seizures Pallor EEG abnormality Weight loss Abnormality of metabolism/homeostasis Dementia Scapular winging Generalized muscle weakness Neuronal loss in central nervous system Cardiac arrest Diffuse leukoencephalopathy Organic aciduria Ketonuria Abnormality of visual evoked potentials Hyperammonemia Choreoathetosis Aciduria Nausea and vomiting Lethargy Stroke Thrombocytopenia Renal insufficiency Fatigue Anemia Growth delay Elevated hepatic transaminase Increased CSF protein Limb muscle weakness Status epilepticus Frequent falls Headache Elevated serum creatine phosphokinase Progressive neurologic deterioration Falls Hypoglycemia Dysmetria Lower limb muscle weakness Mutism Difficulty walking Aphasia Pes cavus Abnormality of mitochondrial metabolism Hypertrophic cardiomyopathy Loss of speech Morphological abnormality of the pyramidal tract Cerebellar atrophy Nausea Motor delay Flexion contracture Scoliosis Confusion Cranial nerve paralysis Facial palsy Impaired pain sensation Abnormality of the liver Abnormal nerve conduction velocity Pseudobulbar paralysis Generalized tonic-clonic seizures Congenital cataract Excessive daytime somnolence Abnormality of the nervous system Pachygyria Arrhythmia Decreased liver function Rigidity Congestive heart failure Oligodontia Stroke-like episode Short phalanx of finger Varicose veins Growth abnormality Prolonged QT interval Amaurosis fugax Subcutaneous hemorrhage Hyperkalemia Cerebral ischemia High pitched voice Short chin Mania Loss of consciousness Ventricular arrhythmia Short metatarsal Ventricular tachycardia Perseveration 2-3 toe syndactyly Bicuspid aortic valve Abnormality of nervous system morphology Decreased body weight Optic neuropathy Transient ischemic attack Preauricular pit Myotonia Migraine with aura Hypokalemia Focal sensory seizure Recurrent subcortical infarcts Retinal arteriolar tortuosity Facial asymmetry Brachydactyly Wide nasal bridge Abnormality of the skeletal system Abnormality of the dentition Tachycardia Malar flattening Syndactyly Pulmonic stenosis Short palm Toe syndactyly Clinodactyly Broad forehead Delayed skeletal maturation Clinodactyly of the 5th finger Blepharophimosis Thin upper lip vermilion Joint laxity Bulbous nose Cleft palate Hypoplasia of dental enamel Abulia Palpitations Subcortical dementia Short palpebral fissure Renal hypoplasia Coarctation of aorta Specific learning disability Short metacarpal Syncope Short stature Triangular face Hypoplasia of the maxilla Delayed eruption of teeth Nonarteritic anterior ischemic optic neuropathy Scintillating scotoma Short foot Small hand Subdural hemorrhage Agenesis of permanent teeth Heterotopia Long nose Hypoketotic hypoglycemia Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Chronic fatigue Glutaric aciduria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Difficulty climbing stairs Oliguria Progressive spastic quadriplegia Ventricular fibrillation Elevated plasma acylcarnitine levels Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Ketotic hypoglycemia Personality disorder Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Restrictive ventilatory defect Stridor Slender long bone Antegonial notching of mandible Proximal muscle weakness Arthralgia High forehead Dyspnea Diarrhea Macrocephaly Depressed nasal bridge Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Periodic hyperkalemic paralysis Telecanthus Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Periodic paralysis Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Myalgia Hyperlordosis Back pain Renal dysplasia Polycystic kidney dysplasia Slurred speech Easy fatigability Poor head control Ragged-red muscle fibers Exercise intolerance Type I diabetes mellitus Wide anterior fontanel Anorexia Left ventricular hypertrophy Bulbar palsy Abnormality of the pinna Abnormality of the genital system Cardiomegaly Waddling gait Increased serum lactate Muscle cramps Renal cyst Hepatic steatosis Pulmonary hypoplasia Joint hyperflexibility Dilated cardiomyopathy Respiratory tract infection Amyloidosis Gangrene Scotoma Pendular nystagmus Abnormality of the kidney Diabetes mellitus Immunodeficiency Progressive leukoencephalopathy Frontoparietal polymicrogyria Psychomotor deterioration Primitive reflex Severe lactic acidosis Agitation Stage 5 chronic kidney disease Hypoplasia of the brainstem Wide intermamillary distance Arthrogryposis multiplex congenita Retrognathia Polyhydramnios Recurrent infections Hypoplasia of the corpus callosum Intrauterine growth retardation Motor aphasia Neurological speech impairment Nephropathy Peripheral axonal degeneration Methylmalonic acidemia Dilatation Blindness Hydrocephalus Metabolic ketoacidosis Chronic metabolic acidosis Cerebellar hemorrhage Abnormal globus pallidus morphology Tubulointerstitial abnormality Hyperglycinemia Postural instability Homocystinuria Methylmalonic aciduria Delayed CNS myelination Tubulointerstitial nephritis Macrocytic anemia Ischemic stroke Leukopenia Pancytopenia Dehydration Distal upper limb amyotrophy Abnormality of peripheral nerve conduction Reduced visual acuity Cogwheel rigidity Abnormality of the foot Distal muscle weakness Hyporeflexia Kyphosis Skeletal muscle atrophy Focal motor seizures Craniofacial dystonia Acute encephalopathy Abnormality of the basal ganglia Distal amyotrophy Atrophy/Degeneration affecting the brainstem Focal impaired awareness seizure Bilateral ptosis External ophthalmoplegia Generalized-onset seizure Focal-onset seizure Ophthalmoplegia Intellectual disability, mild Ptosis Peripheral axonal neuropathy Distal sensory impairment Absent Achilles reflex Decreased number of peripheral myelinated nerve fibers Spinocerebellar tract degeneration Achilles tendon contracture Distal lower limb amyotrophy Hand tremor Upper limb undergrowth Hyperventilation Onion bulb formation Axonal loss Pathologic fracture Abnormal cerebellum morphology Lower limb hyperreflexia Axonal degeneration Decreased motor nerve conduction velocity Toe walking Language impairment Dysdiadochokinesis Incoordination Limb ataxia Intention tremor Recurrent respiratory infections Protruding ear Cerebral hemorrhage Cerebral calcification Lissencephaly Purpura Microretrognathia Opacification of the corneal stroma Cerebral visual impairment Postnatal microcephaly Intellectual disability, profound Sloping forehead Abnormality of movement Congenital microcephaly Corneal opacity Skin rash Hepatosplenomegaly Micropenis Cerebellar hypoplasia Microphthalmia Long philtrum Splenomegaly Intellectual disability, severe Petechiae Delayed speech and language development Cerebellar gliosis Myocardial infarction Personality changes Apathy Abnormal electroretinogram Shock Atherosclerosis Recurrent pneumonia Truncal ataxia Hemiparesis Psychosis Hypertension Bradykinesia Memory impairment Abnormality of the skin Migraine Urinary incontinence Vertigo Abnormality of eye movement Attention deficit hyperactivity disorder Abnormality of the eye Anteverted nares Hypothalamic hypothyroidism Optic disc pallor Hyperactive deep tendon reflexes CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Diffuse cerebral atrophy Autoimmune thrombocytopenia Ankle clonus Unexplained fevers Progressive spasticity Global brain atrophy Hemiplegia/hemiparesis Postural tremor CNS hypomyelination Spastic paraparesis EMG abnormality Horizontal nystagmus Progressive muscle weakness Decerebrate rigidity Abnormal flash visual evoked potentials Autoamputation of digits Keratoconjunctivitis sicca Autoamputation Cerebellar cortical atrophy Spinal deformities EMG: chronic denervation signs Degeneration of the lateral corticospinal tracts Urinary retention Corpus callosum atrophy Lewy bodies Diabetes insipidus Frontal bossing Epiphora Keratitis Poor suck Parkinsonism Unsteady gait Hypothyroidism Prominent forehead Constipation Short nose Abnormality of blood glucose concentration


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