Hyperreflexia, and Falls

Diseases related with Hyperreflexia and Falls

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

Top matches:

CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME Is also known as lenk-ploski syndrome

Related symptoms:

  • Delayed speech and language development
  • Hyperreflexia
  • Dysphagia
  • Hypertonia
  • Dystonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET BASAL GANGLIA DEGENERATION SYNDROME

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22; SCAR22

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Other less relevant matches:

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 44; SCA44

AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME Is also known as spax4|autosomal recessive spastic ataxia type 4

Related symptoms:

  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA-OPTIC ATROPHY-DYSARTHRIA SYNDROME

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.

SPINOCEREBELLAR ATAXIA TYPE 35 Is also known as sca35

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Delayed speech and language development
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 35

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Falls

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Frequent falls Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Tremor Dystonia Dysmetria Unsteady gait Cerebellar atrophy Mental deterioration Intention tremor Seizures Dementia Rigidity Bradykinesia Myoclonus Progressive cerebellar ataxia Motor delay Gait ataxia Abnormal pyramidal sign Babinski sign Nystagmus Dysphagia Spasticity

Rare Symptoms - Less than 30% cases

Behavioral abnormality Limb ataxia Difficulty walking Hypertonia Global developmental delay Chorea Neurodegeneration Abnormality of movement Depressivity Intellectual disability, moderate Hallucinations Spastic ataxia Abnormal cerebellum morphology Truncal ataxia Parkinsonism Excessive salivation Synophrys Pallor Clumsiness Poor head control Hyperkinesis Clonus Monotonic speech Choreoathetosis Hypsarrhythmia Abnormality of extrapyramidal motor function Muscular hypotonia Ptosis Oculomotor apraxia Upper limb hypertonia Movement abnormality of the tongue Horizontal nystagmus Lower limb hypertonia Progressive gait ataxia Delayed ability to walk Emotional lability Spastic paraparesis Infantile muscular hypotonia Opisthotonus Agitation Hand tremor Cerebellar hypoplasia Microcephaly Generalized hypotonia Abnormality of the orbital region Mild microcephaly Thick eyebrow Nonprogressive cerebellar ataxia Dysmetric saccades Pseudobulbar paralysis Thoracic hemivertebrae Neck muscle weakness Agenesis of corpus callosum Incoordination Torticollis Slurred speech Ophthalmoplegia Apraxia Intellectual disability, mild Peripheral neuropathy Oculogyric crisis Cerebellar vermis hypoplasia Drowsiness Restlessness Hemivertebrae Personality changes Paraparesis Ophthalmoparesis Urinary incontinence Generalized myoclonic seizures Tetraplegia Confusion Inappropriate behavior Morphological abnormality of the pyramidal tract Senile plaques Lewy bodies Neurofibrillary tangles Alzheimer disease Postural instability Psychosis Abnormality of eye movement Kyphoscoliosis Lower limb spasticity Hypoplasia of the corpus callosum Craniofacial dystonia Loss of ability to walk Steppage gait Drooling Developmental regression Elevated serum creatine phosphokinase Absent speech Spastic tetraplegia Spastic tetraparesis Hyporeflexia Acanthocytosis Optic atrophy Hypermetric saccades Dysdiadochokinesis Sensory impairment Hearing impairment Abnormality of the cerebrum Abnormal corpus striatum morphology Caudate atrophy Functional motor deficit Primitive reflex Action tremor Mutism Delusions Apathy Involuntary movements Memory impairment Irritability Anxiety Weight loss Cerebral cortical atrophy Gait disturbance Lafora bodies Paranoia Abnormality of the distal phalanx of the thumb


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