Hyperreflexia, and Dysmetria

Diseases related with Hyperreflexia and Dysmetria

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

Top matches:

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

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 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA Is also known as x-linked sideroblastic anemia with ataxia|xlsa-a|pagon-bird-detter syndrome

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA AND SPINOCEREBELLAR ATAXIA

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

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.

SPINOCEREBELLAR ATAXIA TYPE 29 Is also known as cnpca|aplasia of cerebellar vermis|congenital nonprogressive spinocerebellar ataxia|cerebellar vermis aplasia|sca29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|acv

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 29

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 18 Is also known as sca18

Related symptoms:

  • Hearing impairment
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 18

Top 5 symptoms//phenotypes associated to Hyperreflexia and Dysmetria

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
Tremor Common - Between 50% and 80% cases
Intention tremor Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Unsteady gait

Common Symptoms - More than 50% cases

Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases

Dysdiadochokinesis Abnormal pyramidal sign Global developmental delay Abnormal cerebellum morphology Truncal ataxia Broad-based gait Intellectual disability Limb ataxia Progressive cerebellar ataxia Sensorimotor neuropathy Motor delay Delayed speech and language development Cognitive impairment

Rare Symptoms - Less than 30% cases

Titubation Spasticity Strabismus Generalized hypotonia Babinski sign Oculomotor apraxia Nonprogressive cerebellar ataxia Pes cavus Abnormality of eye movement Intellectual disability, mild Cerebellar vermis atrophy Head tremor Horizontal nystagmus Seizures Sensory impairment Hearing impairment Neurological speech impairment Action tremor Vertical supranuclear gaze palsy Peripheral neuropathy Sensory neuropathy Parkinsonism Dementia Cerebellar hypoplasia Areflexia Peripheral axonal neuropathy Lower limb hyperreflexia Jerky ocular pursuit movements Muscle fibrillation Dysmetric saccades Hypometric saccades Skeletal muscle atrophy Progressive gait ataxia Slurred speech Diplopia Abnormality of extrapyramidal motor function Poor speech Muscle weakness Focal-onset seizure Urinary incontinence Dystonia Mental deterioration Neurodegeneration Delayed fine motor development Truncal titubation Diffuse cerebellar atrophy Abnormal saccadic eye movements Vertical nystagmus Visual fixation instability Apraxia Agenesis of cerebellar vermis Gaze-evoked nystagmus Athetosis Focal impaired awareness seizure Delayed gross motor development Cerebral palsy Delayed social development Hypochromic microcytic anemia Abnormality of the eye Bradykinesia Falls Hypoplasia of the corpus callosum Tremor by anatomical site Limb dysmetria Poor fine motor coordination Hypokinesia Postural tremor Cerebral atrophy Scoliosis Behavioral abnormality Gait disturbance Functional motor deficit Pontocerebellar atrophy Scanning speech Spastic paraparesis Paraparesis Loss of ability to walk Lower limb spasticity Muscular hypotonia Impaired distal vibration sensation Polyneuropathy Kinetic tremor CNS demyelination Impaired proprioception Slow saccadic eye movements Impaired vibration sensation in the lower limbs Impaired vibratory sensation Peripheral demyelination Neuronal loss in central nervous system Agenesis of corpus callosum Anemia Sideroblastic anemia Hyperactive deep tendon reflexes Microcytic anemia Incoordination Clonus Abnormality of movement Abnormality of metabolism/homeostasis Intrauterine growth retardation Hyporeflexia of lower limbs


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