Tremor, and Generalized tonic-clonic seizures

Diseases related with Tremor and Generalized tonic-clonic seizures

In the following list you will find some of the most common rare diseases related to Tremor and Generalized tonic-clonic seizures that can help you solving undiagnosed cases.


Top matches:

High match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6 Is also known as cortical myoclonic tremor with epilepsy, familial, 6|benign adult familial myoclonic epilepsy 6|fcmte6|bafme6

Related symptoms:

  • Seizures
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5


Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5 Is also known as fcmte5|cortical myoclonic tremor with epilepsy, familial, 5

Related symptoms:

  • Seizures
  • Tremor
  • Myoclonus
  • Generalized tonic-clonic seizures
  • Focal-onset seizure


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5

Low match EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2


Familial adult myoclonic epilepsy-2 is an autosomal dominant neurologic disorder characterized by rhythmic myoclonic jerks of cortical origin. Some affected individuals have generalized tonic-clonic seizures, and rare patients show cognitive decline (summary by De Fusco et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial adult myoclonic epilepsy, see FAME1 (OMIM ).

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2 Is also known as adcme|bafme2|cortical myoclonic tremor with epilepsy, familial, 2|benign adult familial myoclonic epilepsy 2|cortical myoclonus and epilepsy, autosomal dominant|fcmte2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

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Other less relevant matches:

Low match BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY


Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme|bafme|benign adult familial myoclonic epilepsy 1|autosomal dominant cortical myoclonus and epilepsy|fame|cortical myoclonic tremor with epilepsy, familial, 1|familial adult myoclonic epilepsy|benign adult familial myoclonus epilepsy|familial cortica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Tremor
  • Headache


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Low match MYOCLONIC-ASTASTIC EPILEPSY


Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Low match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


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

Low match UNVERRICHT-LUNDBORG DISEASE


Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about UNVERRICHT-LUNDBORG DISEASE

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

Low match X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE


X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.

X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE Is also known as mental retardation, x-linked, with epilepsy|mrxsh|mrxe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, HEDERA TYPE

Top 5 symptoms//phenotypes associated to Tremor and Generalized tonic-clonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Myoclonus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized myoclonic seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Tremor and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Dementia Cerebral atrophy Cognitive impairment Intellectual disability, moderate Mental deterioration Epileptic encephalopathy Dysarthria Giant somatosensory evoked potentials Atonic seizures Focal-onset seizure

Rare Symptoms - Less than 30% cases


Rigidity Absence seizures Bradykinesia Absent speech Action tremor Fever Limb ataxia Motor delay Scoliosis Delayed speech and language development Developmental regression Generalized hypotonia Epileptic spasms Babinski sign Cutaneous photosensitivity Hypomimic face Hand tremor Generalized-onset seizure Focal impaired awareness seizure Muscle fibrillation Neurodegeneration Involuntary movements EEG with photoparoxysmal response EEG with irregular generalized spike and wave complexes Jerk-locked premyoclonus spikes Enhancement of the C-reflex Hypoplasia of the corpus callosum EEG abnormality Eyelid myoclonus Cortical myoclonus Status epilepticus Dyskinesia Tetraplegia Encephalopathy Spastic paraplegia Severe global developmental delay Cerebral cortical atrophy Lafora bodies Intellectual disability, severe Impaired horizontal smooth pursuit Spastic tetraplegia Hyporeflexia Agraphesthesia Infantile spasms Resting tremor Slurred speech Drooling Apraxia Parkinsonism Postural instability Cerebellar atrophy Hypsarrhythmia Gait disturbance EEG with burst suppression EEG with polyspike wave complexes Infantile encephalopathy Cerebral hypomyelination Generalized tonic seizures CNS hypomyelination Intellectual disability, profound Morning myoclonic jerks EEG with spike-wave complexes (>3.5 Hz) Olivopontocerebellar atrophy Aggressive behavior Focal sensory seizure Blepharospasm Headache Loss of consciousness Kinetic tremor Amaurosis fugax Peripheral neuropathy Cerebellar hypoplasia Gait ataxia Difficulty walking Dysmetria Sensory neuropathy Progressive cerebellar ataxia Sensory axonal neuropathy Autistic behavior Intention tremor Falls Febrile seizures Impulsivity Abnormal brain FDG positron emission tomography Photosensitive tonic-clonic seizures EEG with abnormally slow frequencies Myoclonic atonic seizures Short stature Dystonia Arnold-Chiari type I malformation Myokymia Myoclonic absences Depressivity Poor speech Astereognosia



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