Spasticity, and Leukoencephalopathy

Diseases related with Spasticity and Leukoencephalopathy

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


Top matches:

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B


Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63


Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63 Is also known as spg63

Related symptoms:

  • Global developmental delay
  • Short stature
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 63

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 HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY


Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.

HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY Is also known as hbsl|aspartyl-trna synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

Low match EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION


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 WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS


Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Low match LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA


Leukoencephalopathy with ataxia is an autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient (ADC) values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles. The findings suggest myelin microvacuolation restricted to certain brain regions. Clinical features include ataxia and unstable gait; more variable abnormalities may include visual field defects, headaches, and learning disabilities (summary by Depienne et al., 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH MILD CEREBELLAR ATAXIA AND WHITE MATTER EDEMA

Low match RIBOSE-5-P ISOMERASE DEFICIENCY


Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RIBOSE-5-P ISOMERASE DEFICIENCY

Low match ALZHEIMER DISEASE 3; AD


ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

Top 5 symptoms//phenotypes associated to Spasticity and Leukoencephalopathy

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hyperreflexia Generalized hypotonia Dystonia Mental deterioration Dysarthria Hypoplasia of the corpus callosum CNS hypomyelination Macrocephaly Diffuse swelling of cerebral white matter Megalencephaly

Rare Symptoms - Less than 30% cases


Intellectual disability, profound Cerebral atrophy Dysphagia Peripheral neuropathy Headache Delayed myelination Babinski sign Intellectual disability, mild Motor deterioration Progressive neurologic deterioration Progressive cerebellar ataxia Nystagmus Cerebellar atrophy Gait disturbance Diffuse white matter abnormalities Spastic paraplegia Abnormality of the periventricular white matter Rigidity Myoclonus Alzheimer disease Personality changes Mutism Spastic tetraparesis Spastic paraparesis Cerebral cortical atrophy Spastic gait Paraparesis Memory impairment Tetraparesis Psychosis Apraxia Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Ophthalmoplegia Lower limb hyperreflexia Paraplegia Brain atrophy Dysphasia Clonus Neurofibrillary tangles Cognitive impairment Postnatal microcephaly Spastic tetraplegia Chorea Sleep disturbance Dyskinesia Irritability Progressive spasticity Flexion contracture Microcephaly Optic ataxia Limb apraxia Cerebellar vermis atrophy Agnosia Dyscalculia Anarthria Dysgraphia Progressive microcephaly Primitive reflex Shuffling gait Lewy bodies Frontotemporal dementia Delusions Dementia Optic neuropathy Decreased level of erythritol in urine Pallor Poor eye contact Poor head control Severe muscular hypotonia Generalized-onset seizure Epileptic encephalopathy Severe global developmental delay Apnea Absent speech Lower limb spasticity Muscular hypotonia of the trunk Delayed speech and language development Ventriculomegaly Scissor gait Delayed ability to walk Delayed gross motor development Decreased body weight Hypertonia Skeletal muscle atrophy Short stature Clumsiness Autism Cerebral hypomyelination Leukodystrophy Decreased level of erythritol in CSF Increased level of ribose in CSF Increased level of xylitol in CSF Increased level of D-threitol in plasma Increased level of ribitol in CSF Increased level of D-threitol in urine Increased level of D-threitol in CSF Increased level of ribose in urine Increased level of ribitol in urine Increased level of xylitol in urine Elevated circulating ribitol concentration Sensorimotor neuropathy Abnormal muscle tone Polyneuropathy Cirrhosis Optic atrophy Abnormal chorioretinal morphology Abnormal retinal morphology Visual field defect Schizophrenia Limb ataxia Gait ataxia Diffuse spongiform leukoencephalopathy Limb joint contracture



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