Seizures, and Dysmetria

Diseases related with Seizures and Dysmetria

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


Top matches:

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

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

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Other less relevant matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match SPINOCEREBELLAR ATAXIA TYPE 29


Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Low match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Low match NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP


Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Low match LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16


Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

Low match AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY


Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 13|scar13|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO MGLUR1 DEFICIENCY

Low match SPINOCEREBELLAR ATAXIA TYPE 10


Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.

SPINOCEREBELLAR ATAXIA TYPE 10 Is also known as sca10

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 10

Top 5 symptoms//phenotypes associated to Seizures and Dysmetria

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Seizures and Dysmetria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dysarthria

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy Hyperreflexia Global developmental delay Intellectual disability Cognitive impairment Dysdiadochokinesis Hypoplasia of the corpus callosum Cerebellar hypoplasia Dystonia Intention tremor Limb ataxia Unsteady gait Abnormal pyramidal sign Myoclonus

Rare Symptoms - Less than 30% cases


Motor delay Delayed speech and language development Horizontal nystagmus Broad-based gait Oculomotor apraxia Focal impaired awareness seizure Gaze-evoked nystagmus Abnormality of the nervous system Hypertonia Intellectual disability, mild Progressive cerebellar ataxia Generalized myoclonic seizures Absent speech Babinski sign Mental deterioration Abnormality of eye movement Neurological speech impairment Scanning speech Pes planus Ventriculomegaly Ptosis Focal motor seizures Short stature Hyporeflexia Rotary nystagmus Esotropia CNS hypomyelination Leukodystrophy Feeding difficulties Vertical supranuclear gaze palsy Athetosis Apraxia Urinary incontinence Parkinsonism Polyneuropathy Difficulty standing Intellectual disability, profound Inferior vermis hypoplasia Dyskinesia Sleep disturbance Generalized-onset seizure Status epilepticus Lower limb spasticity Depressivity Apathy Abnormality of ocular abduction Retrocerebellar cyst Hypometric saccades Urinary urgency Impaired smooth pursuit Functional motor deficit Limb dysmetria Gait imbalance Kinetic tremor Gaze-evoked horizontal nystagmus Aggressive behavior Neurodegeneration Delayed fine motor development Hearing impairment Hyperactivity Cerebral palsy Truncal ataxia Focal-onset seizure Abnormal cerebellum morphology Poor speech Vegetative state Inability to walk Rigidity Gait disturbance Cerebellar vermis atrophy Action tremor Atonic seizures Sensory axonal neuropathy Sensory neuropathy Generalized tonic-clonic seizures Difficulty walking Dementia Peripheral neuropathy Abnormality of movement Delayed gross motor development Agenesis of cerebellar vermis Abnormal myelination Muscular hypotonia of the trunk Myokymia Spastic tetraparesis Tetraparesis Hypsarrhythmia Spastic tetraplegia Epileptic encephalopathy Tetraplegia Intellectual disability, moderate EEG abnormality Titubation Encephalopathy Intellectual disability, severe Visual fixation instability Delayed social development Truncal titubation Diffuse cerebellar atrophy Abnormal saccadic eye movements Vertical nystagmus Nonprogressive cerebellar ataxia EEG with generalized epileptiform discharges



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