Spasticity, and Ventriculomegaly

Diseases related with Spasticity and Ventriculomegaly

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


Top matches:

Low match PYRIDOXINE-DEPENDENT EPILEPSY


Pyridoxine-dependent epilepsy (PDE) is a rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).

PYRIDOXINE-DEPENDENT EPILEPSY Is also known as antiquitin deficiency|vitamin b6-dependent seizures

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PYRIDOXINE-DEPENDENT EPILEPSY

Low match CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A


Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

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Other less relevant matches:

Low match BAND HETEROTOPIA; BH


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about BAND HETEROTOPIA; BH

Low match X-LINKED PARKINSONISM-SPASTICITY SYNDROME


X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Low match MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Spasticity
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE; MCPH19

Low match PORENCEPHALY 2; POREN2


Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about PORENCEPHALY 2; POREN2

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Low match MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE; MCPH15

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5


MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Top 5 symptoms//phenotypes associated to Spasticity and Ventriculomegaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Tetraplegia Motor delay Strabismus Progressive neurologic deterioration Muscular hypotonia Spastic tetraplegia Intellectual disability, severe Heterotopia Delayed myelination Cerebral atrophy Dilation of lateral ventricles Cortical gyral simplification Polymicrogyria Pachygyria Macrocephaly Cognitive impairment Abnormal facial shape Clumsiness Cerebral degeneration Intraventricular hemorrhage Porencephalic cyst Intracranial hemorrhage Hemiplegia Focal-onset seizure Headache Cerebral visual impairment Decreased body weight Blindness Hypertonia Talipes equinovarus Severe global developmental delay Hypoplasia of the brainstem Pigmentary retinopathy Increased serum lactate Lactic acidosis Retinopathy Developmental regression Acidosis Elevated serum creatine phosphokinase Feeding difficulties Cerebral white matter hypoplasia Spastic tetraparesis Sloping forehead Progressive microcephaly Spastic gait Tetraparesis Inability to walk Upslanted palpebral fissure Cerebellar hypoplasia Absent speech Limb hypertonia Partial agenesis of the corpus callosum Lissencephaly Failure to thrive Spastic paraparesis Dilated third ventricle Brain atrophy Leukoencephalopathy Progressive cerebellar ataxia Abnormality of the cerebral white matter Mental deterioration Cerebellar atrophy Dysarthria Ataxia Cerebral palsy Neurodegeneration Motor deterioration Neonatal hypotonia Nystagmus Status epilepticus Abnormality of movement Neurological speech impairment EEG abnormality Cerebral cortical atrophy Abnormality of metabolism/homeostasis Hepatomegaly Megalencephaly Diffuse white matter abnormalities Scissor gait Neuronal loss in central nervous system Cogwheel rigidity Diffuse cerebral atrophy Hyperactive deep tendon reflexes Resting tremor Ankle clonus Alzheimer disease Mask-like facies Paraparesis Bradykinesia Parkinsonism Diffuse swelling of cerebral white matter Dyskinesia Rigidity Babinski sign Tremor Profound global developmental delay Sleep disturbance Behavioral abnormality Hydrocephalus Abnormality of the skeletal system Leukodystrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Abnormality of mitochondrial metabolism, related diseases and genetic alterations Ventricular septal defect and Hypodontia, related diseases and genetic alterations Myopia and Retinal degeneration, related diseases and genetic alterations Tremor and Facial palsy, related diseases and genetic alterations

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