Hyperreflexia, and Stereotypy

Diseases related with Hyperreflexia and Stereotypy

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

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

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Related symptoms:

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


SOURCES: ORPHANET MENDELIAN

More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

Other less relevant matches:

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|asct1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC TETRAPLEGIA-THIN CORPUS CALLOSUM-PROGRESSIVE POSTNATAL MICROCEPHALY SYNDROME

EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017).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
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Stereotypy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Microcephaly Aggressive behavior Spasticity Delayed speech and language development Dystonia Intellectual disability, severe Muscular hypotonia Hypertonia Cerebellar atrophy Strabismus Postnatal microcephaly Growth delay Irritability Poor speech Short stature Hypsarrhythmia Dyslexia Inability to walk Flexion contracture Mutism Cerebral cortical atrophy Cerebral atrophy Babinski sign Behavioral abnormality

Rare Symptoms - Less than 30% cases

Drooling Difficulty walking Narrow forehead Narrow face Visual impairment Feeding difficulties Decreased light- and dark-adapted electroretinogram amplitude Decreased muscle mass Talipes Spastic tetraplegia Delayed myelination Tetraplegia Long nose Mandibular prognathia Hyperactivity Hypoplasia of the corpus callosum Epileptic encephalopathy Coarse facial features Short philtrum Severe global developmental delay Intellectual disability, mild Inappropriate laughter Happy demeanor Self-mutilation Ventriculomegaly Opisthotonus Generalized-onset seizure Wide mouth Pain Abnormality of the eye Thin upper lip vermilion Autism Gait ataxia Encephalopathy Skeletal muscle atrophy Abnormal facial shape Developmental regression Dysphagia Gait disturbance Personality changes Perseveration Inappropriate behavior Dysgraphia Disinhibition Astrocytosis Frontotemporal dementia Loss of speech Restlessness Apathy Hyperorality Neuronal loss in central nervous system Self-injurious behavior Memory impairment Urinary incontinence Mental deterioration Rigidity Myoclonus Choreoathetosis Spastic diplegia Dyscalculia Impulsivity Lack of insight Dysphasia Abnormality of the cerebral white matter Abnormality of extrapyramidal motor function Involuntary movements Congenital cataract Visual loss Rod-cone dystrophy Conspicuously happy disposition Photophobia Muscular hypotonia of the trunk Abnormality of the kidney Retinopathy Hypermetropia Retinal dystrophy Retinal degeneration Blindness Pigmentary retinopathy Cerebellar vermis hypoplasia Encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Cone/cone-rod dystrophy Abnormal electroretinogram Dilatation Hepatomegaly Abnormality of the skeletal system Generalized joint laxity Poor head control Photosensitive tonic-clonic seizures Lower limb spasticity Progressive spastic paraplegia Abnormality of the periventricular white matter Overweight Genu recurvatum Facial hypotonia Spastic dysarthria Tremor Acetabular dysplasia Everted upper lip vermilion Shyness Prominent antihelix Hearing impairment Hypertelorism Sensorineural hearing impairment Cataract Abnormality of the nose Hemiplegia/hemiparesis High hypermetropia Abnormality of neuronal migration Abnormality of eye movement Deeply set eye Feeding difficulties in infancy Arthrogryposis multiplex congenita Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Ophthalmoplegia Narrow chest Abnormality of the foot Joint hyperflexibility Macrotia Intellectual disability, progressive Unsteady gait Long face Truncal ataxia Clonus Thick eyebrow Sleep disturbance Decreased body weight Intellectual disability, profound Hyperkinesis Gastroesophageal reflux Atrophy/Degeneration affecting the brainstem Bowel incontinence Open mouth Keratoconus Slender finger Hyperactive deep tendon reflexes Congenital blindness Severe vision loss Pendular nystagmus Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellum Pectus excavatum Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the thorax Cachexia Fundus atrophy Eye poking Hyperthreoninuria Hyperthreoninemia Adducted thumb Ataxia Talipes equinovalgus Collectionism Pointed chin Apraxia Short nose Long philtrum Orofacial dyskinesia Brachycephaly Senile plaques Global brain atrophy Alzheimer disease Smooth philtrum CNS hypomyelination Low-set ears Flat occiput Brisk reflexes Poor eye contact Cerebellar vermis atrophy Prominent metopic ridge Epileptic spasms Short attention span Cerebral hypomyelination Hypointensity of cerebral white matter on MRI Anteverted nares Infantile spasms Confusion Febrile seizures Emotional blunting Abulia Frontotemporal cerebral atrophy Restrictive behavior Abnormal brain FDG positron emission tomography Upper motor neuron dysfunction Echolalia Generalized myoclonic seizures Thickened nuchal skin fold Hip dysplasia Optic nerve hypoplasia Fasciculations Progressive microcephaly Psychosis Generalized tonic-clonic seizures Optic atrophy Frontal cortical atrophy EEG abnormality Frontal release signs Status epilepticus Scoliosis Abnormal pyramidal sign Amblyopia Talipes equinovarus Testicular atrophy Facial grimacing Hyperuricosuria Excessive purine production Bladder stones Podagra High palate Wide nasal bridge Downslanted palpebral fissures Dementia Megaloblastic anemia EEG with continuous slow activity Pes planus Neonatal hypotonia Pica Spastic paraplegia Paraplegia Progressive spasticity Bulbous nose Waddling gait Focal dystonia Gout Anemia Nephropathy Motor delay Dysarthria Vomiting Renal insufficiency Clinodactyly Clinodactyly of the 5th finger Arthritis Hip dislocation Hematuria Chorea Hyperuricemia Clumsiness Recurrent urinary tract infections Nephrolithiasis Spastic gait Finger clinodactyly Cerebral palsy Oral-pharyngeal dysphagia Proximal placement of thumb Athetosis Loss of ability to walk in first decade


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