Generalized hypotonia, and Gliosis

Diseases related with Generalized hypotonia and Gliosis

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

Top matches:

Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.

HOT WATER REFLEX EPILEPSY Is also known as bathing epilepsy|water immersion epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Abnormality of the nervous system


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOT WATER REFLEX EPILEPSY

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53

Other less relevant matches:

X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHILDHOOD-ONSET MOTOR AND COGNITIVE REGRESSION SYNDROME WITH EXTRAPYRAMIDAL MOVEMENT DISORDER

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Gliosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Encephalopathy Uncommon - Between 30% and 50% cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Dysarthria Hypoplasia of the corpus callosum Cerebellar atrophy Depressivity Microcephaly Bradykinesia Abnormal posturing Spasticity Rigidity Global developmental delay Tremor Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases

Gait disturbance Ventriculomegaly Behavioral abnormality Chorea Hyperreflexia Mental deterioration Developmental regression Basal ganglia gliosis Dysphagia Lactic acidosis Muscular hypotonia of the trunk Dystonia Hypertrophic cardiomyopathy Gait ataxia Anxiety Abnormality of movement Unsteady gait Inability to walk Postural instability Acidosis Cardiomyopathy Respiratory distress Nystagmus Delayed speech and language development Involuntary movements Mutism Dementia Cyanosis Memory impairment Feeding difficulties Visual impairment Tetraplegia Increased serum lactate Epileptic encephalopathy Resting tremor Cognitive impairment Abnormality of the nervous system Weight loss Muscular hypotonia Intellectual disability, profound Hypsarrhythmia Status epilepticus Progressive neurologic deterioration Abnormality of ocular smooth pursuit Increased body weight Language impairment Impulsivity Abnormal head movements Jerky ocular pursuit movements High pitched voice Abnormality of higher mental function Developmental stagnation Delusions Abnormal saccadic eye movements Abnormality of the shoulder Mania Poor fine motor coordination Abnormality of the basal ganglia Slow saccadic eye movements Restlessness Axonal loss Motor deterioration Hyperactive deep tendon reflexes Hypokinesia Global brain atrophy Mask-like facies Personality changes Jerky head movements Central hypotonia Simultanapraxia Abnormal pyramidal sign Epileptic spasms Multifocal seizures Poor eye contact Muscle fibrillation Clonus Progressive microcephaly Focal-onset seizure Delayed myelination Slurred speech Focal motor seizures Apnea Failure to thrive Hyperactivity Neurodegeneration Generalized-onset seizure Brain atrophy Premature birth Peripheral demyelination Myoclonus Pneumonia Absent speech Persistent lactic acidosis Biventricular hypertrophy Primitive reflex Reduced ejection fraction Flushing Hypoventilation Decreased fetal movement Hepatic steatosis Generalized myoclonic seizures Retrocollis Incoordination Elevated serum creatine phosphokinase Hypertonia Fever Motor delay Increased body mass index Cervical cord compression Microphallus Truncal obesity Cerebellar hypoplasia Obesity Abnormal facial shape Short stature Progressive spastic quadriplegia Spastic tetraplegia Auditory hallucinations Progressive cerebellar ataxia Paranoia Senile plaques Lewy bodies Neurofibrillary tangles Orthostatic hypotension Abnormal autonomic nervous system physiology Hallucinations Hypotension Generalized tonic-clonic seizures with focal onset Drowsiness Febrile seizures Generalized tonic-clonic seizures Pallor Intellectual disability, mild Apraxia Frequent falls Cardiomegaly Clumsiness Dysmetria Abnormality of eye movement Aggressive behavior EEG abnormality Neuronal loss in basal ganglia Limited extraocular movements Inspiratory stridor Breathing dysregulation Increased CSF lactate Stridor Ragged-red muscle fibers Spontaneous abortion Feeding difficulties in infancy Broad-based gait Respiratory insufficiency Oculogyric crisis Personality disorder Craniofacial dystonia Weak voice Torsion dystonia Focal dystonia Hypomimic face Limb dystonia Emotional lability Dysphonia Drooling Torticollis Anarthria


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