Ataxia, and Brain atrophy

Diseases related with Ataxia and Brain atrophy

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


Top matches:

Low match KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Low match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy


SOURCES: OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

Low match SPINOCEREBELLAR ATAXIA TYPE 12


Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

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Other less relevant matches:

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

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 CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Low match SPINOCEREBELLAR ATAXIA TYPE 17


Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

SPINOCEREBELLAR ATAXIA TYPE 17 Is also known as hdl4|sca17|huntington disease-like 4

Related symptoms:

  • Ataxia
  • Spasticity
  • Gait disturbance
  • Cerebellar atrophy
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 17

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53


Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13|gpibd13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

Low match TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Top 5 symptoms//phenotypes associated to Ataxia and Brain atrophy

Symptoms // Phenotype % cases
Cerebral atrophy Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Unsteady gait Dysarthria Intellectual disability Spasticity Postural tremor Generalized hypotonia Rigidity Parkinsonism Dementia Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases


Tremor Global developmental delay Absent speech Muscular hypotonia of the trunk Dystonia Neuronal loss in central nervous system Personality changes Abnormality of extrapyramidal motor function Hyporeflexia Depressivity Hyperreflexia Behavioral abnormality Cerebellar hypoplasia Sensorimotor neuropathy Hearing impairment Chorea Migraine Memory impairment Frontal release signs Diffuse cerebral atrophy Primitive reflex Emotional lability Resting tremor Hand tremor Focal-onset seizure Dyskinesia Head tremor Involuntary movements Atrophy/Degeneration affecting the brainstem Torticollis EEG with focal spikes Blepharospasm Abnormality of movement Anxiety Hypoglycemia Writer's cramp Generalized cerebral atrophy/hypoplasia Cerebellar Purkinje layer atrophy Delayed speech and language development Intrauterine growth retardation Fatigue Fever Intellectual disability, profound Severe muscular hypotonia Hypoplasia of the corpus callosum Macrocephaly Myoclonus Hypokinesia Areflexia Peripheral neuropathy Tremor by anatomical site Limb dysmetria Poor fine motor coordination Action tremor Intention tremor Distal sensory impairment Bradykinesia Abnormal cerebellum morphology Corpus callosum atrophy Truncal ataxia Inability to walk Neurodegeneration Abnormality of eye movement Peripheral axonal neuropathy Sensory impairment Babinski sign Abnormality of the cerebral white matter Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Motor deterioration Megalencephaly Leukoencephalopathy Progressive neurologic deterioration Progressive cerebellar ataxia Ventriculomegaly Foot dorsiflexor weakness Motor delay Absence seizures Hypsarrhythmia Epileptic encephalopathy Gait ataxia Encephalopathy Alzheimer disease Kinetic tremor



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