Spasticity, and Generalized seizures

Diseases related with Spasticity and Generalized seizures

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


Top matches:

Medium 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

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: UMLS MONDO ORPHANET OMIM SCTID DOID

More info about PHOSPHOSERINE PHOSPHATASE DEFICIENCY; PSPHD

Low match X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

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Other less relevant matches:

Low match DYSTONIA 9; DYT9

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

DYSTONIA 9; DYT9 Is also known as choreoathetosis/spasticity, episodic, cse choreoathetosis, paroxysmal, with episodic ataxia, choreoathetosis, kinesigenic, with episodic ataxia and spasticity;dyt9; episodic choreoathetosis/spasticity

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Ataxia
  • Cognitive impairment
  • Spasticity


SOURCES: OMIM SCTID MONDO ORPHANET UMLS MESH DOID

More info about DYSTONIA 9; DYT9

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Related symptoms:

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


SOURCES: UMLS MONDO DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 Is also known as hypomyelination, global cerebral, aspartate-glutamate carrier 1 deficiency, agc1 deficiency;agc1 deficiency; mitochondrial aspartate-glutamate carrier 1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO MESH OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39

Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10

Progressive myoclonic epilepsy-10 is an autosomal recessive neurodegenerative disorder characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life. The severity is variable, but some patients may become mute and bedridden with psychosis (summary by Turnbull et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria


SOURCES: UMLS OMIM ORPHANET MONDO

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 10; EPM10

Low match PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Cognitive impairment


SOURCES: MONDO DOID UMLS OMIM

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM ORPHANET

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49; MRT49

Top 5 symptoms//phenotypes associated to Spasticity and Generalized seizures

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

Patients with Spasticity and Generalized seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Dysarthria Generalized hypotonia Hypertonia Absent speech Epileptic encephalopathy Cognitive impairment Ataxia Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases


Hallucinations Dystonia Pica Generalized myoclonic seizures Generalized tonic-clonic seizures Dyskinesia Postural instability Infantile onset Clonus Rigidity Absence seizures Microcephaly Cerebral atrophy Psychosis Progressive Status epilepticus Brain atrophy Motor delay Bradykinesia Spastic tetraplegia Parkinsonism Slow progression Intellectual disability, moderate Inability to walk Tremor Spastic tetraparesis Lafora bodies Frequent falls Paranoia Spastic ataxia Progressive cerebellar ataxia Mutism Confusion Febrile seizures Akinesia Focal seizures with impairment of consciousness or awareness Drooling Postnatal microcephaly Narrow forehead Hypoplasia of the corpus callosum Delayed speech and language development Failure to thrive Atypical absence seizures Hemiclonic seizures Aspiration pneumonia Developmental stagnation Aspiration Global brain atrophy Cyanosis Limb ataxia Pneumonia Fever Anarthria Hypometric saccades Visual hallucinations Hypomimic face Shuffling gait Rapidly progressive Resting tremor Urinary incontinence Intellectual disability, profound Tetraplegia Paraplegia Diplopia Paraparesis Spastic paraparesis Dehydration Choreoathetosis Athetosis Migraine Paresthesia Chorea Spastic paraplegia Brisk reflexes Headache Babinski sign Gait disturbance Autosomal dominant inheritance Muscle stiffness Hemiplegia Postnatal growth retardation Intrauterine growth retardation Growth delay Involuntary movements Episodic ataxia Falls Leukoencephalopathy Mental deterioration Dementia Myoclonus Behavioral abnormality Cerebral hypomyelination Poor eye contact Severe muscular hypotonia Poor head control CNS hypomyelination Delayed myelination Morphological abnormality of the pyramidal tract Severe global developmental delay Apnea Hypsarrhythmia Muscular hypotonia of the trunk Gait ataxia Arrhythmia Paroxysmal choreoathetosis Paroxysmal dyskinesia Progressive spastic paraparesis Progressive spasticity


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