Hyperreflexia, and Chorea

Diseases related with Hyperreflexia and Chorea

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.

FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA Is also known as fdfm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Motor delay
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL DYSKINESIA AND FACIAL MYOKYMIA

Other less relevant matches:

Early infantile epileptic encephalopathy-37 is an autosomal recessive severe epileptic-dyskinetic disorder characterized by onset of intractable seizures or abnormal movements in the first years of life. Affected individuals show global developmental delay and/or developmental regression after onset of seizures. Patients also show a hyperkinetic movement disorder with choreoathetosis, spasticity, and rigidity. The individuals are severely affected, with mental retardation, absent speech, and impaired volitional movements (summary by Madeo et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37; EIEE37

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:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 14; SCA14

Medium match MEPAN SYNDROME

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016).

MEPAN SYNDROME Is also known as childhood-onset generalized dystonia-optic atrophy syndrome|dystonia 29|dyt29|autosomal recessive childhood-onset dystonia, dyt29 type|dystonia 29, childhood-onset|mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEPAN 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 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form|pkan, atypical form|nbia1, atypical form

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Hyperreflexia and Chorea

Symptoms // Phenotype % cases
Dystonia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Gait disturbance Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Choreoathetosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myoclonus Ataxia Seizures Spasticity Cognitive impairment Tremor Involuntary movements Generalized hypotonia Nystagmus Depressivity Rigidity Dysphagia Dyskinesia Abnormality of movement Motor delay Global developmental delay Parkinsonism

Rare Symptoms - Less than 30% cases

Anxiety Memory impairment Hypertonia Optic atrophy Difficulty walking Falls Gait ataxia Progressive cerebellar ataxia Cerebral cortical atrophy Myokymia Facial myokymia Dementia Cerebellar atrophy Paroxysmal dyskinesia Focal dystonia Bradykinesia Irritability Behavioral abnormality Delayed speech and language development Impulsivity Absent speech Poor head control Clonus Abnormal pyramidal sign Muscular hypotonia of the trunk Hypsarrhythmia Oculogyric crisis Excessive salivation Drowsiness Restlessness Opisthotonus Agitation Hyperkinesis Pallor Abnormality of extrapyramidal motor function Muscle cramps Ptosis Muscular hypotonia Craniofacial dystonia Abnormality of eye movement Abnormality of the eye Reduced visual acuity Short stature Visual impairment Impaired vibration sensation at ankles Scanning speech Hyporeflexia Spastic paraparesis Fasciculations Blindness Inertia Tongue atrophy Oromandibular dystonia Upper motor neuron dysfunction Limb dystonia Emotional lability Obsessive-compulsive behavior Frequent falls Clumsiness Psychosis Neurological speech impairment Retinopathy Abnormal cell morphology Head tremor Cerebellar Purkinje layer atrophy Spinal cord posterior columns myelin loss Abnormality of the spinocerebellar tracts Abnormality of the substantia nigra Olivopontocerebellar hypoplasia Cerebral white matter atrophy Supranuclear ophthalmoplegia Kinetic tremor Abnormal cortical gyration Slow saccadic eye movements Hyperactive deep tendon reflexes Ophthalmoparesis Postural tremor Dysmetria Impaired vibratory sensation Paresthesia Headache Babinski sign Orofacial dyskinesia Spastic paraplegia Limb hypertonia Resting tremor Delayed gross motor development Generalized tonic-clonic seizures Paraplegia Dilated cardiomyopathy Postural instability Encephalopathy Migraine Dehydration Congestive heart failure Cardiomyopathy Diplopia Paroxysmal choreoathetosis Paraparesis Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Progressive spastic paraplegia Cerebral atrophy Pica Abnormal cerebellum morphology Action tremor Brisk reflexes Attention deficit hyperactivity disorder Mental deterioration Aggressive behavior Abnormality of the cerebrum Abnormal corpus striatum morphology Caudate atrophy Functional motor deficit Primitive reflex Acanthocytosis Delusions Developmental regression Personality changes Apathy Hallucinations Lower limb spasticity Stereotypy Neurodegeneration Self-injurious behavior Weight loss Spastic diplegia Progressive spasticity Epileptic encephalopathy Violent behavior


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Microdontia, related diseases and genetic alterations Dysarthria and Growth hormone deficiency, related diseases and genetic alterations