Hyperreflexia, and Neurological speech impairment

Diseases related with Hyperreflexia and Neurological speech impairment

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Neurological speech impairment 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

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

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

Other less relevant matches:

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

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia
  • Intellectual disability, mild


SOURCES: OMIM MESH MENDELIAN

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Neurological speech impairment

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria 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

Other less frequent symptoms

Patients with Hyperreflexia and Neurological speech impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Limb ataxia Intellectual disability Tremor Delayed speech and language development Seizures Progressive cerebellar ataxia

Rare Symptoms - Less than 30% cases

Absent speech Generalized hyperreflexia Abnormality of the eye Scanning speech Lower limb hyperreflexia Gaze-evoked nystagmus Dysmetric saccades Unsteady gait Generalized hypotonia Global developmental delay Motor delay Dysdiadochokinesis Muscular hypotonia of the trunk Intention tremor Truncal ataxia Symmetric lesions of the basal ganglia Bradykinesia Degeneration of the striatum Abnormality of the basal ganglia Dysmetria Parkinsonism Hyperactive deep tendon reflexes Hypokinesia Hyperkinesis Slurred speech Paraparesis Spastic paraparesis Vertical supranuclear gaze palsy Broad-based gait Drooling Pontocerebellar atrophy Babinski sign Abnormality of ocular smooth pursuit Progressive gait ataxia Incoordination Fasciculations Neuronal loss in central nervous system Sensory impairment Abnormal cerebellum morphology Paralysis Frontoparietal polymicrogyria Functional motor deficit Perisylvian polymicrogyria Speech apraxia Muscle fibrillation Rigidity Clonus Focal-onset seizure Polymicrogyria Intellectual disability, mild Abnormality of movement Behavioral abnormality Dysphagia Hyporeflexia Cerebellar vermis atrophy Peripheral neuropathy Saccadic smooth pursuit Delayed gross motor development Postural instability Abnormality of eye movement Intellectual disability, moderate Restlessness Cognitive impairment Athetosis Abnormality of extrapyramidal motor function Increased serum lactate Inability to walk Severe global developmental delay Dementia Dystonia Intellectual disability, severe Hypermetric saccades Abnormal pyramidal sign Gait disturbance Lower limb spasticity Pica Progressive spasticity Spastic diplegia Impulsivity Self-injurious behavior Poor head control Stereotypy Choreoathetosis Postural tremor Aggressive behavior Spasticity Short stature Limb tremor Gaze-evoked horizontal nystagmus Head tremor Action tremor Impaired smooth pursuit Impaired horizontal smooth pursuit


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