Cognitive impairment, and Leukodystrophy

Diseases related with Cognitive impairment and Leukodystrophy

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


Top matches:

Medium match SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8


Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

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 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

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Other less relevant matches:

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

Low match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Low match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Low match AICARDI-GOUTIERES SYNDROME 2; AGS2


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Low match LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC


Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996).See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC ), an autosomal recessive disorder caused by mutation in the CTC1 gene (OMIM ) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012).

LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC Is also known as labrune syndrome

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC

Low match AICARDI-GOUTIERES SYNDROME 6; AGS6


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Spasticity
  • Tremor


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Top 5 symptoms//phenotypes associated to Cognitive impairment and Leukodystrophy

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Leukodystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Progressive neurologic deterioration Abnormal pyramidal sign Generalized hypotonia Dysarthria Babinski sign Tremor Neurodegeneration Nystagmus Ataxia Abnormality of the cerebral white matter Hypertonia Intellectual disability Leukoencephalopathy Mental deterioration Dysphagia Developmental regression Cerebral calcification Clonus Loss of speech Motor delay Ventriculomegaly Paraplegia Spastic paraplegia

Rare Symptoms - Less than 30% cases


CNS demyelination Abnormality of extrapyramidal motor function Optic atrophy Microcephaly Peripheral demyelination Dysmetria Rigidity Difficulty walking Cerebral atrophy Muscle stiffness Gait disturbance Peripheral neuropathy Hyporeflexia Gliosis Hemiparesis Abnormality of the nervous system Hypoplasia of the corpus callosum Motor deterioration Delayed speech and language development Titubation Feeding difficulties Cerebellar atrophy Gait ataxia Spastic tetraparesis Impaired vibratory sensation Spastic gait Chronic CSF lymphocytosis Knee clonus Paraparesis Lymphocytosis Basal ganglia calcification Impaired distal vibration sensation Spastic paraparesis Hyporeflexia of lower limbs Pruritus Decreased nerve conduction velocity Encephalopathy Distal lower limb amyotrophy Abnormal cerebellum morphology Dilatation Corpus callosum atrophy Spastic dysarthria Spastic hemiparesis Areflexia of lower limbs Abnormality of the periventricular white matter Anemia Osteopenia Thrombocytopenia Frequent falls Glaucoma Areflexia Limb tremor Loss of ability to walk Tetraparesis Generalized dystonia Progressive spastic paraplegia Freckling Ankle clonus Toe walking Lower limb spasticity Neonatal hypotonia Astigmatism Hemolytic anemia Falls Skin rash Intellectual disability, moderate Hypermetropia Abnormality of the vasculature Hemiplegia Gastrointestinal hemorrhage Inability to walk Abnormality of movement Reduced visual acuity Moderate global developmental delay Alzheimer disease Urinary incontinence Diffuse swelling of cerebral white matter Pigmentary retinopathy Increased serum lactate Delayed myelination Lactic acidosis Retinopathy Acidosis Elevated serum creatine phosphokinase Rotary nystagmus CNS hypomyelination Broad-based gait Intention tremor Diffuse spongiform leukoencephalopathy Abnormal muscle tone Behavioral abnormality Megalencephaly Progressive cerebellar ataxia Intellectual disability, mild Macrocephaly Head titubation Hypometric saccades Spastic ataxia Limb dystonia Truncal ataxia Limb ataxia Abnormality of eye movement Abnormality of the eye Pachygyria Depressivity Polyneuropathy Insomnia Muscular hypotonia Muscle weakness Frontal release signs Frontal lobe dementia Diffuse leukoencephalopathy Inappropriate behavior Restless legs Vegetative state Astrocytosis Senile plaques Shuffling gait Frontotemporal dementia Atrophy/Degeneration affecting the brainstem Dementia Neurofibrillary tangles Decreased number of peripheral myelinated nerve fibers Personality changes Mutism Apraxia Bradykinesia Neuronal loss in central nervous system Memory impairment Brain atrophy Parkinsonism Postural instability Confusion Cerebral cortical atrophy Temporal optic disc pallor



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