Hyperreflexia, and Gait ataxia

Diseases related with Hyperreflexia and Gait ataxia

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

Top matches:

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

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

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

Other less relevant matches:

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

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

Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.

SPINOCEREBELLAR ATAXIA TYPE 26 Is also known as sca26

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 26

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 6 Is also known as sca6

Related symptoms:

  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Dysphagia
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 6

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

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Top 5 symptoms//phenotypes associated to Hyperreflexia and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Limb ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intention tremor Babinski sign Progressive cerebellar ataxia Action tremor Gaze-evoked nystagmus Peripheral neuropathy Tremor Abnormal pyramidal sign Head tremor Unsteady gait

Rare Symptoms - Less than 30% cases

Dysmetric saccades Scanning speech Gaze-evoked horizontal nystagmus Hypermetric saccades Dysmetria Kinetic tremor Neuronal loss in central nervous system Incoordination Cognitive impairment Truncal ataxia Cerebellar vermis atrophy Postural instability Abnormality of eye movement Tremor by anatomical site Upper limb postural tremor Motor delay Seizures Vertical nystagmus CNS demyelination Bradyopsia Choking episodes Diplopia Blepharospasm Abnormality of vision Dystonia Dysphagia Generalized limb muscle atrophy Atrophy of the spinal cord Distal lower limb muscle weakness Motor axonal neuropathy Vertigo Bradykinesia Cerebral calcification Impaired vibration sensation in the lower limbs Peripheral demyelination Sensorimotor neuropathy Spastic gait Sensory neuropathy Dementia Impaired vibratory sensation Slow saccadic eye movements Polyneuropathy Pes cavus Agenesis of corpus callosum Isometric tremor Downbeat nystagmus Laryngeal dystonia Impaired proprioception Dysphonia Progressive spastic paraplegia Abnormal cerebellum morphology Lower limb spasticity Lower limb hyperreflexia Paraparesis Broad-based gait Neurological speech impairment Limb tremor Impaired smooth pursuit Postural tremor Saccadic smooth pursuit Dysdiadochokinesis Delayed gross motor development Abnormality of the eye Intellectual disability, moderate Hyporeflexia Delayed speech and language development Intellectual disability Spastic paraparesis Vertical supranuclear gaze palsy Distal amyotrophy Generalized hyperreflexia Paraplegia Spastic paraplegia Abnormality of the skeletal system Gait disturbance Skeletal muscle atrophy Spasticity Impaired horizontal smooth pursuit Pontocerebellar atrophy Abnormality of ocular smooth pursuit Progressive gait ataxia Fasciculations Sensory impairment Paralysis Functional motor deficit Impaired distal vibration sensation


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