Abnormality of the skeletal system, and Leukoencephalopathy

Diseases related with Abnormality of the skeletal system and Leukoencephalopathy

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system 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 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2


Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 (OMIM ) by a later age of onset (Verdura et al., 2015).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Gait disturbance
  • Headache
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2

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

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Other less relevant matches:

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

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 ABETA AMYLOIDOSIS, DUTCH TYPE


Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia.

ABETA AMYLOIDOSIS, DUTCH TYPE Is also known as hchwad|amyloidosis, hereditary, with cerebral hemorrhage, dutch variant|hereditary cerebral hemorrhage with amyloidosis, dutch type|cerebral amyloid angiopathy, app-related, iowa variant|cerebral amyloid angiopathy, app-related, italian variant|hchwa, dut

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertension
  • Behavioral abnormality
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETA AMYLOIDOSIS, DUTCH TYPE

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 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH


IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Leukoencephalopathy

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

Patients with Abnormality of the skeletal system and Leukoencephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Mental deterioration Headache Intellectual disability, mild CNS hypomyelination Generalized hypotonia Hyperreflexia Global developmental delay Progressive neurologic deterioration Macrocephaly Diffuse swelling of cerebral white matter Megalencephaly

Rare Symptoms - Less than 30% cases


Gait disturbance Hypoplasia of the corpus callosum Progressive cerebellar ataxia Dementia Stroke Transient ischemic attack Motor deterioration Delayed speech and language development Diffuse white matter abnormalities Short stature Cognitive impairment Abnormal muscle tone Peripheral neuropathy Diffuse spongiform leukoencephalopathy Severe global developmental delay Leukodystrophy Poor eye contact Dystonia Delayed myelination Dysphagia Cerebral hypomyelination Poor head control Severe muscular hypotonia Intellectual disability, profound Epileptic encephalopathy Generalized-onset seizure Tremor Gait ataxia Atrial septal defect Recurrent skin infections Bicuspid aortic valve Absence seizures Hoarse voice Decreased antibody level in blood Abnormal heart morphology Recurrent infections Immunodeficiency Cardiomyopathy Limb ataxia Absent speech Failure to thrive Growth delay Abnormal chorioretinal morphology Optic neuropathy Abnormal retinal morphology Visual field defect Schizophrenia Apnea Behavioral abnormality Tortuous cerebral arteries Hypertonia Dysarthria Scissor gait Abnormality of the periventricular white matter Delayed ability to walk Delayed gross motor development Decreased body weight Spastic paraplegia Skeletal muscle atrophy Cerebellar atrophy Status cribrosum Recurrent subcortical infarcts Perivascular spaces Hyperintensity of cerebral white matter on MRI Alopecia Clumsiness Autism Ventriculomegaly Cerebral atrophy Recurrent cerebral hemorrhage Cerebral hemorrhage Cerebellar hemorrhage Cerebral amyloid angiopathy Cerebral ischemia Senile plaques Neurofibrillary tangles Amyloidosis Alzheimer disease Intracranial hemorrhage Nystagmus Cerebral calcification Encephalopathy Hypertension Lower limb spasticity Pallor Muscular hypotonia of the trunk Babinski sign IgA deficiency



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