Ataxia, and Macrocephaly

Diseases related with Ataxia and Macrocephaly

In the following list you will find some of the most common rare diseases related to Ataxia and Macrocephaly 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 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 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

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Other less relevant matches:

Low match N-ACETYLASPARTATE DEFICIENCY; NACED


N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency|hypoacetylaspartia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about N-ACETYLASPARTATE DEFICIENCY; NACED

Low match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Low match ATYPICAL TERATOID RHABDOID TUMOR


Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match OPTIC ATROPHY 11; OPA11


OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Low match LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Macrocephaly

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

Patients with Ataxia and Macrocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the cerebral white matter Megalencephaly Diffuse swelling of cerebral white matter Motor delay Spasticity

Rare Symptoms - Less than 30% cases


Microcephaly Increased intracranial pressure Nausea and vomiting Abnormal facial shape Frontal bossing Polymicrogyria Hydrocephalus Gait ataxia Cranial nerve paralysis Hearing impairment Absent speech Midface retrusion Visual impairment Strabismus Overgrowth Short stature Hypertelorism Motor deterioration Progressive neurologic deterioration Diffuse white matter abnormalities Dysarthria Progressive cerebellar ataxia Intellectual disability, mild Mental deterioration Cerebral atrophy Hyperactivity Hyperkinesis Amblyopia Brain atrophy Dysmetria Hypermetropia Macrotia Obtundation status Cerebellar hypoplasia Abnormality of mitochondrial metabolism Optic atrophy Myopia Neoplasm of the thyroid gland Fibroadenoma of the breast Sclerotic vertebral endplates Cutaneous finger syndactyly Short finger Enlarged cerebellum Acrokeratosis Facial diplegia Headache Gingival overgrowth Papule Abnormal palmar dermatoglyphics Small earlobe Epileptic spasms Global brain atrophy Flat occiput Self-injurious behavior Focal impaired awareness seizure Sandal gap Cerebral visual impairment Macroglossia Abnormality of the basal ganglia Dental crowding Hand polydactyly Hypsarrhythmia Ovarian neoplasm Epileptic encephalopathy Inability to walk Developmental regression Difficulty walking Clinodactyly Encephalopathy Behavioral abnormality Hyperostosis Hemiplegia/hemiparesis Tetraparesis Unsteady gait Polydactyly Depressed nasal bridge Nystagmus Short attention span Self-mutilation Truncal ataxia Stereotypy Decreased body weight Broad-based gait Generalized-onset seizure Inguinal hernia Abnormal cerebellum morphology Diffuse spongiform leukoencephalopathy Abnormal muscle tone Leukodystrophy Dystonia Dysphagia Delayed speech and language development Cerebellar atrophy Ventriculomegaly Clumsiness Autism Postaxial polydactyly Apraxia Small nail Apathy Nail dysplasia Dental malocclusion Facial asymmetry Facial palsy Mandibular prognathia Syndactyly Abnormality of the skeletal system Gait disturbance Malignant neoplasm of the central nervous system Reduced consciousness/confusion Cerebral palsy Cerebellar vermis hypoplasia Cerebral calcification Migraine Limitation of joint mobility Irritability Muscle weakness Elongated superior cerebellar peduncle Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Tall stature Trichilemmoma



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