Hyperreflexia, and Myoclonus

Diseases related with Hyperreflexia and Myoclonus

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

Top matches:

general increase in bulk of a muscle due to an increase in cell volume; it is not due to tumor formation, nor to an increase in the number of cells.

Related symptoms:

  • Myoclonus
  • Skeletal muscle hypertrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOSTATIN-RELATED MUSCLE HYPERTROPHY

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.

GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY Is also known as gamt deficiency|creatine deficiency syndrome due to gamt deficiency|guanidinoacetate methyltransferase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY

Low match CLN13 DISEASE

Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Other less relevant matches:

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

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

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

A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 Is also known as dem|dementia, familial nonspecific|dmt1

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Dystonia
  • Cerebral atrophy
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

SPINOCEREBELLAR ATAXIA 19; SCA19 Is also known as sca22|spinocerebellar ataxia 22

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 19; SCA19

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 14; SCA14

Low 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

Top 5 symptoms//phenotypes associated to Hyperreflexia and Myoclonus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Dystonia Mental deterioration Gait disturbance Cerebellar atrophy Rigidity Generalized hypotonia Chorea Dementia Cerebral atrophy Progressive cerebellar ataxia Dyskinesia Spasticity Dysphagia Involuntary movements Intellectual disability Abnormality of movement

Rare Symptoms - Less than 30% cases

Confusion Motor delay Memory impairment Choreoathetosis Postural tremor Personality changes Global developmental delay Mutism Neuronal loss in central nervous system Frontal release signs Difficulty walking Urinary incontinence Muscular hypotonia of the trunk Babinski sign Depressivity Abnormality of eye movement Gait ataxia Hypertonia Behavioral abnormality Myokymia Orofacial dyskinesia Facial myokymia Abnormal pyramidal sign Frontal cortical atrophy Lack of insight Loss of speech Hyperorality Dyscalculia Perseveration Alzheimer disease Global brain atrophy Restlessness Dysgraphia Disinhibition Astrocytosis Senile plaques Frontotemporal dementia Inappropriate behavior Cogwheel rigidity Hyporeflexia Impaired vibratory sensation Abnormality of the eye Reduced visual acuity Optic atrophy Visual impairment Impaired vibration sensation at ankles Scanning speech Focal dystonia Head tremor Abnormal cerebellum morphology Limb ataxia Dysmetria Attention deficit hyperactivity disorder Intermittent microsaccadic pursuits Gaze-evoked horizontal nystagmus Urinary urgency Akinesia Horizontal nystagmus Truncal ataxia Apathy Absent speech Stereotypy Progressive extrapyramidal movement disorder Congestive heart failure Cardiomyopathy Primitive reflex Diffuse cerebral atrophy Emotional lability Abnormality of extrapyramidal motor function Focal-onset seizure Self-mutilation Dilated cardiomyopathy Infantile muscular hypotonia Absence seizures Intellectual disability, profound Autistic behavior Hyperactivity Intellectual disability, severe Delayed speech and language development Muscular hypotonia Anxiety Delayed gross motor development Aggressive behavior Spastic tetraplegia Cerebral cortical atrophy Lafora bodies Paranoia Spastic ataxia Spastic tetraparesis Hallucinations Frequent falls Psychosis Generalized myoclonic seizures Resting tremor Tetraplegia Falls Epileptic encephalopathy Developmental regression Encephalopathy Skeletal muscle hypertrophy Paroxysmal dyskinesia Limb hypertonia Craniofacial dystonia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Gait ataxia, related diseases and genetic alterations Dysarthria and Falls, related diseases and genetic alterations