Hyperreflexia, and Dysarthria

Diseases related with Hyperreflexia and Dysarthria

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

Top matches:

Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 11; SCA11

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

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

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

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24; ALS24

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dysarthria

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Truncal ataxia Tremor Unsteady gait Spasticity Abnormal pyramidal sign Cognitive impairment Intention tremor Motor delay Abnormality of the eye Progressive cerebellar ataxia

Rare Symptoms - Less than 30% cases

Abnormality of eye movement Abnormal cerebellum morphology Dysmetria Dysdiadochokinesis Dysphagia Scanning speech Intellectual disability Seizures Dysmetric saccades Lower limb hyperreflexia Gaze-evoked nystagmus Falls Generalized hyperreflexia Paralysis Bulbar signs Hypoplasia of the corpus callosum Sensory impairment Neuronal loss in central nervous system Fasciculations Incoordination Progressive gait ataxia Abnormality of ocular smooth pursuit Amyotrophic lateral sclerosis Tetraparesis Impaired horizontal smooth pursuit Generalized hypotonia Global developmental delay Head titubation Absent speech Dystonia Neurodegeneration Leukodystrophy Abnormal lower motor neuron morphology Limb dystonia Spastic ataxia Titubation Hypometric saccades Respiratory insufficiency Functional motor deficit Babinski sign Slurred speech Pontocerebellar atrophy Limb tremor Delayed speech and language development Hyporeflexia Intellectual disability, moderate Postural instability Delayed gross motor development Saccadic smooth pursuit Peripheral neuropathy Cerebellar vermis atrophy Hypermetric saccades Postural tremor Impaired smooth pursuit Action tremor Head tremor Gaze-evoked horizontal nystagmus Gait disturbance Vertical supranuclear gaze palsy Rigidity Abnormality of movement Parkinsonism Bradykinesia Hyperkinesis Hypokinesia Hyperactive deep tendon reflexes Abnormality of the basal ganglia Degeneration of the striatum Symmetric lesions of the basal ganglia Neurological speech impairment Broad-based gait Paraparesis Spastic paraparesis Lower limb spasticity


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