Ataxia, and Motor delay

Diseases related with Ataxia and Motor delay

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25


Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8


Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8; NBIA8

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

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 15|scar15|salih ataxia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY

Low match SPINOCEREBELLAR ATAXIA 15; SCA15


SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly|spinocerebellar ataxia 16, formerly

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 15; SCA15

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Low match CHOREA, BENIGN HEREDITARY; BHC


CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

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 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Low match X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA


X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.

X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA Is also known as scax5|x-linked spinocerebellar ataxia type 5

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON PROGRESSIVE CEREBELLAR ATAXIA

Top 5 symptoms//phenotypes associated to Ataxia and Motor delay

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed speech and language development Seizures Progressive cerebellar ataxia Unsteady gait Hyperreflexia Tremor Truncal ataxia Cognitive impairment

Rare Symptoms - Less than 30% cases


Megalencephaly Intention tremor Saccadic smooth pursuit Limb ataxia Action tremor Mental deterioration Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Global developmental delay Leukoencephalopathy Abnormality of the cerebral white matter Autism Clumsiness Macrocephaly Spasticity Cerebellar hypoplasia Dysmetria Axial dystonia Cerebral atrophy Ventriculomegaly Chorea Astrocytosis Neuronal loss in central nervous system Asthma Anxiety Myoclonus Progressive neurologic deterioration Spastic dysarthria Motor deterioration Nonprogressive cerebellar ataxia Feeding difficulties Frontal bossing Frequent falls Retrognathia Cerebellar vermis hypoplasia Deeply set eye Inability to walk Strabismus Babinski sign Neonatal hypotonia Behavioral abnormality Dystonia Gaze-evoked nystagmus Gait disturbance Postural tremor Delayed ability to walk Peripheral neuropathy Sensory neuropathy Loss of ability to walk Hyporeflexia Intellectual disability, moderate Abnormality of the eye Abnormality of eye movement Postural instability Delayed gross motor development Abnormal pyramidal sign Impaired smooth pursuit Atonic seizures Head tremor Scanning speech Dysmetric saccades Gaze-evoked horizontal nystagmus Limb tremor EEG abnormality Autistic behavior Abnormal cerebellum morphology Generalized myoclonic seizures Status epilepticus Absence seizures Generalized neonatal hypotonia



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