Fever, and Myoclonus

Diseases related with Fever and Myoclonus

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

Top matches:

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Motor delay
  • Fever
  • Myoclonus


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Other less relevant matches:

Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015).

Related symptoms:

  • Seizures
  • Spasticity
  • Visual impairment
  • Fever
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 44; IMD44

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency|dhpr deficiency|quinoid dihydropteridine reductase deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency|qdpr deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

Medium match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Medium match NEUROBLASTOMA

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Top 5 symptoms//phenotypes associated to Fever and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Tremor Dystonia Atonic seizures Spasticity Epileptic encephalopathy Rigidity Microcephaly Hypertonia Generalized hypotonia Febrile seizures Generalized tonic-clonic seizures Myokymia Abnormality of extrapyramidal motor function Cerebral atrophy

Rare Symptoms - Less than 30% cases

Absence seizures Cognitive impairment Excessive salivation Chorea Cerebral visual impairment Irritability Focal impaired awareness seizure Gait ataxia Opsoclonus Progressive encephalopathy Focal-onset seizure Muscular hypotonia Choreoathetosis Dysphagia Cutaneous photosensitivity Elevated serum creatine phosphokinase Bradykinesia Apnea Absent speech Delayed speech and language development Hypertension Focal clonic seizures Muscle stiffness Involuntary movements Generalized myoclonic seizures Hyperhidrosis Abnormality of movement Dysarthria Cerebellar atrophy Hypokinesia EEG abnormality Night sweats Umbilical hernia Anxiety Gastroesophageal reflux Parkinsonism with favorable response to dopaminergic medication Inguinal hernia Focal dystonia Joint stiffness Oculogyric crisis Tachycardia Hernia Self-injurious behavior Falls Tetraplegia Infantile muscular hypotonia Poor head control Hyperkinesis Renal insufficiency Athetosis Fatigue Atrophy/Degeneration affecting the brainstem Hypoplasia of the corpus callosum Hyperreflexia Gait disturbance Ventriculomegaly Decreased CSF homovanillic acid Dyskinesia Hip dislocation Nocturnal seizures Sleep disturbance Ganglioneuroma Abnormality of the thorax Neurofibromas Neuroblastoma Spinal cord compression Skin nodule Paraganglioma Neoplasm of the nervous system Cafe-au-lait spot Horner syndrome Ganglioneuroblastoma Adrenal calcification Abdominal mass Elevated urinary dopamine Elevated urinary catecholamines Elevated urinary homovanillic acid Bone pain Weight loss Frequent falls Hiatus hernia Aspiration Fasciculations Congenital hip dislocation Joint dislocation Myotonia Loss of consciousness Esophagitis Abdominal pain Exaggerated startle response Central hypotonia Neoplasm Failure to thrive Pain Anemia Diarrhea Generalized dystonia Neurodevelopmental delay Limb dystonia Progressive cerebellar ataxia Folate deficiency Episodic fever Progressive neurologic deterioration Cerebral calcification Stomatitis Abnormality of mitochondrial metabolism Encephalitis Shock Metabolic acidosis Acidosis Immunodeficiency Visual impairment Motor deterioration Clumsiness Sensory neuropathy Behavioral abnormality Hypomimic face Myalgia Abnormality of the nervous system Cyanosis Exercise-induced myalgia Short stature Arnold-Chiari type I malformation Cortical myoclonus Difficulty walking Eyelid myoclonus Myoclonic absences Scoliosis Peripheral neuropathy Syndactyly Areflexia Hyperphenylalaninemia Hyperactivity Lower limb hyperreflexia Feeding difficulties Opisthotonus Brisk reflexes Mask-like facies Postural tremor Drooling Parkinsonism Lethargy Muscular hypotonia of the trunk Pes cavus Constipation Babinski sign Intellectual disability, mild Respiratory distress Talipes equinovarus Ptosis Mental deterioration Generalized-onset seizure Developmental regression Abnormal pyramidal sign Stroke Severe global developmental delay Abnormal cerebellum morphology Migraine Status epilepticus Obtundation status Postnatal microcephaly Progressive microcephaly Generalized tonic-clonic seizures with focal onset Multifocal seizures Hemiclonic seizures Psychomotor retardation Elevated urinary vanillylmandelic acid


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