Microcephaly, and Leukodystrophy

Diseases related with Microcephaly and Leukodystrophy

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA; LDAMD

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Other less relevant matches:

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 6; AGS6

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

Top 5 symptoms//phenotypes associated to Microcephaly and Leukodystrophy

Symptoms // Phenotype % cases
Nystagmus Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia of the trunk Hyperreflexia Babinski sign Cerebral atrophy Optic atrophy Hypoplasia of the corpus callosum Tremor Hypertonia Progressive neurologic deterioration Encephalopathy Dysarthria Motor delay Ataxia Intellectual disability Developmental regression CNS hypomyelination Lower limb spasticity Cerebral calcification Rigidity Clonus

Rare Symptoms - Less than 30% cases

Poor head control Cognitive impairment Intention tremor Abnormality of extrapyramidal motor function Pneumonia Difficulty walking Vomiting Paraparesis Rotary nystagmus Choreoathetosis Cerebellar atrophy Hearing impairment Short stature Abnormal pyramidal sign Visual impairment Severe global developmental delay Fever Ankle clonus Developmental stagnation Absent speech Frequent falls Falls Cerebral hypomyelination Feeding difficulties Flexion contracture Failure to thrive Toe walking Dysmetria Spastic paraparesis Spastic paraplegia Polymicrogyria Premature birth Increased serum lactate Opisthotonus Progressive microcephaly Postnatal microcephaly Growth delay Muscle stiffness Paraplegia Lymphocytosis Pruritus Motor deterioration Oral-pharyngeal dysphagia Focal-onset seizure Amblyopia Dysphagia Brain atrophy Gliosis Arthrogryposis multiplex congenita Visual loss Severe short stature Inability to walk Hypermetropia EEG abnormality Abnormal cerebellum morphology Progressive cerebellar ataxia Hypsarrhythmia Coarse facial features Kyphoscoliosis Myoclonus Progressive visual loss Cerebellar vermis atrophy Neuronal loss in central nervous system Apraxia Tetraparesis Diffuse cerebral sclerosis Intellectual disability, profound Hydrops fetalis Aspiration Apnea Horizontal nystagmus Edema Leukoencephalopathy Malnutrition Muscular hypotonia Strabismus Sudanophilic leukodystrophy Sensorineural hearing impairment Projectile vomiting Rapid neurologic deterioration Progressive spasticity Progressive flexion contractures Aspiration pneumonia Progressive spastic paraparesis Corpus callosum atrophy Severe failure to thrive Decreased muscle mass Feeding difficulties in infancy Spastic tetraparesis Global brain atrophy Loss of ability to walk Involuntary movements Abnormality of brain morphology Hyperintensity of cerebral white matter on MRI Lower limb hypertonia Pseudobulbar paralysis Diffuse cerebral atrophy Poor eye contact Intellectual disability, mild Chronic CSF lymphocytosis Knee clonus Basal ganglia calcification Neurodegeneration Dilatation Progressive encephalopathy Progressive extrapyramidal movement disorder Hyperammonemia Metabolic acidosis Hepatic failure Lactic acidosis Neonatal hypotonia Acidosis Respiratory failure Respiratory distress Intrauterine growth retardation Hepatomegaly Diffuse white matter abnormalities Intellectual disability, severe Infantile axial hypotonia Absent smooth pursuit Spastic tetraplegia Delayed myelination Specific learning disability Tetraplegia Polyneuropathy Unsteady gait Poor speech Attention deficit hyperactivity disorder Mental deterioration Hyperactivity Delayed speech and language development CSF lymphocytic pleiocytosis Hemiplegia Abnormality of the cerebral white matter Abnormality of the nervous system Irritability Elevated hepatic transaminase Hepatosplenomegaly Thrombocytopenia Limb tremor Moderate global developmental delay Generalized dystonia Loss of speech Progressive spastic paraplegia Freckling Hemolytic anemia Skin rash Athetosis


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