Ataxia, and Hyperreflexia

Diseases related with Ataxia and Hyperreflexia

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


Top matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 15/16


Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.

SPINOCEREBELLAR ATAXIA TYPE 15/16 Is also known as sca15/16

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Cerebellar atrophy
  • Gait ataxia
  • Action tremor


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 15/16

Low match SPINOCEREBELLAR ATAXIA 11; SCA11


Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 11; SCA11

Low match GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

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Other less relevant matches:

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 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

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 TYPE 30


Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.

SPINOCEREBELLAR ATAXIA TYPE 30 Is also known as sca30

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 30

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 AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION


Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.

AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION Is also known as adsd

Related symptoms:

  • Dysarthria
  • Tremor
  • Gait disturbance
  • Dysphagia
  • Rigidity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT STRIATAL NEURODEGENERATION

Low match SPINOCEREBELLAR ATAXIA TYPE 40


Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

Top 5 symptoms//phenotypes associated to Ataxia and Hyperreflexia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Motor delay Generalized hypotonia Unsteady gait Limb ataxia Progressive cerebellar ataxia

Rare Symptoms - Less than 30% cases


Dysmetria Abnormal pyramidal sign Peripheral neuropathy Scanning speech Intention tremor Dysdiadochokinesis Gaze-evoked nystagmus Abnormality of movement Lower limb hyperreflexia Global developmental delay Action tremor Head tremor Intellectual disability, severe Abnormality of the eye Intellectual disability Seizures Symmetric lesions of the basal ganglia Vertical supranuclear gaze palsy Dysmetric saccades Pontocerebellar atrophy Postural tremor Impaired smooth pursuit Limb tremor Truncal ataxia Cognitive impairment Hypermetric saccades Cerebellar vermis atrophy Gaze-evoked horizontal nystagmus Rigidity Gait disturbance Dysphagia Degeneration of the striatum Parkinsonism Bradykinesia Spastic paraparesis Hyperkinesis Slurred speech Paraparesis Hyperactive deep tendon reflexes Abnormality of the basal ganglia Broad-based gait Neurological speech impairment Hypokinesia Inability to walk Saccadic smooth pursuit Progressive extrapyramidal movement disorder Upper limb postural tremor Tremor by anatomical site Muscular hypotonia Hypertonia Behavioral abnormality Myoclonus Hyperactivity Autistic behavior Intellectual disability, profound Involuntary movements Absence seizures Infantile muscular hypotonia Self-mutilation Sensory neuropathy Delayed gross motor development Loss of ability to walk Dystonia Absent speech Dementia Muscular hypotonia of the trunk Severe global developmental delay Increased serum lactate Abnormality of extrapyramidal motor function Athetosis Restlessness Hyporeflexia Intellectual disability, moderate Abnormality of eye movement Postural instability Functional motor deficit



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