Ataxia, and Cerebral calcification

Diseases related with Ataxia and Cerebral calcification

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 20


Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.

SPINOCEREBELLAR ATAXIA TYPE 20 Is also known as sca20

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 20

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 CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

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Other less relevant matches:

Low match DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA


DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

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 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2


CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Low match GRISCELLI SYNDROME TYPE 1


Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Low match REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Low match SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD


SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11


Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Top 5 symptoms//phenotypes associated to Ataxia and Cerebral calcification

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

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

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Hypertonia Generalized hypotonia Abnormal pyramidal sign Cerebellar atrophy Dysarthria

Rare Symptoms - Less than 30% cases


Gastrointestinal hemorrhage Cognitive impairment Motor delay Microcephaly Abnormality of the cerebral white matter Encephalopathy Abnormality of movement Hemiplegia Osteopenia Leukoencephalopathy Anemia Cerebral atrophy Basal ganglia calcification Myoclonus Mental deterioration Feeding difficulties Leukodystrophy Choreoathetosis Premature graying of hair Growth delay Gait ataxia Abnormality of the vasculature Intrauterine growth retardation Irritability Retinopathy Fine hair Leukocoria Accumulation of melanosomes in melanocytes Reticulated skin pigmentation Silver-gray hair Exudative retinopathy Generalized bronze hyperpigmentation Fine, reticulate skin pigmentation Partial albinism Failure to thrive Ridged fingernail Bone marrow hypocellularity Nail pits Melanin pigment aggregation in hair shafts Abnormality of metabolism/homeostasis Sparse hair Nail dystrophy Oral leukoplakia Aplastic anemia Progressive neurologic deterioration Broad-based gait Megalocornea Hyperpigmentation of the skin Purpura Cerebellar hypoplasia Generalized dystonia Delayed eruption of teeth Progressive microcephaly Generalized tonic-clonic seizures Abnormality of eye movement Brain atrophy Febrile seizures Epileptic encephalopathy Spastic tetraplegia Hypsarrhythmia Status epilepticus Slurred speech Abnormality of the eye Back pain Language impairment Hyponatremia Global brain atrophy Infantile spasms Atonic seizures Hyperventilation Megalencephaly Paralysis Muscular hypotonia of the trunk Eczema Sulfite oxidase deficiency Cerebellar vermis hypoplasia Aspiration Infantile muscular hypotonia Ectopia lentis Agitation Restlessness White hair Molybdenum cofactor deficiency Decreased urinary sulfate Abnormality of the nervous system Increased urinary sulfite Pain Optic atrophy Hypoplasia of the corpus callosum Edema Vomiting Headache Neonatal hypotonia Hemophagocytosis Pancytopenia Iris hypopigmentation Hearing impairment Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion Malignant neoplasm of the central nervous system Sensorineural hearing impairment Limitation of joint mobility Delayed speech and language development Ventriculomegaly Severe global developmental delay Poor speech Athetosis Abnormal myelination Migraine Nausea and vomiting Focal white matter lesions Laryngeal dystonia Vertigo Bradykinesia Intention tremor Dysphonia Gaze-evoked nystagmus Kinetic tremor Downbeat nystagmus Hydrocephalus Upper limb postural tremor Hypermetric saccades Tremor by anatomical site Isometric tremor Muscle weakness Macrocephaly Abnormal CNS myelination Doll-like facies Freckling Scoliosis Hypertension Hyperreflexia Telangiectasia Portal hypertension Esophageal varix Retinal telangiectasia Muscular hypotonia Hemiparesis Recurrent infections Hypopigmentation of the skin Exotropia Diplopia Severe muscular hypotonia Hyperlipidemia Loss of speech Abnormality of extrapyramidal motor function Nonprogressive encephalopathy Peripheral demyelination Dilatation Dementia Generalized myoclonic seizures Chorea Delayed myelination Neuronal loss in central nervous system Involuntary movements Gliosis Personality changes Atrophy of the dentate nucleus Fetal cystic hygroma Tremor Gait disturbance Thrombocytopenia Inability to walk Excessive daytime sleepiness



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