Feeding difficulties, and Epileptic encephalopathy

Diseases related with Feeding difficulties and Epileptic encephalopathy

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Epileptic encephalopathy that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21; EIEE21

Related symptoms:

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30; EIEE30

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57; EIEE57

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

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

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2

Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ITPA-RELATED ENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Feeding difficulties and Epileptic encephalopathy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Epileptic encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypsarrhythmia Cerebral atrophy Hypoplasia of the corpus callosum Generalized myoclonic seizures Inability to walk Microcephaly Visual impairment Dystonia Absent speech

Rare Symptoms - Less than 30% cases

Generalized tonic-clonic seizures Abnormality of the cerebral white matter Status epilepticus Hypertonia Dyskinesia Delayed speech and language development Muscular hypotonia of the trunk Brain atrophy Myoclonus Febrile seizures Involuntary movements Spasticity Opisthotonus Apnea Epileptic spasms Poor suck Pallor Muscular hypotonia Clonus Cortical gyral simplification Extrapyramidal dyskinesia Cerebral edema Limb hypertonia Progressive microcephaly Hypoplasia of the brainstem Blindness Profound global developmental delay Congenital microcephaly Delayed CNS myelination High pitched voice Severe muscular hypotonia Delayed myelination Irritability Cardiomyopathy Intrauterine growth retardation Cataract Limb myoclonus Brisk reflexes Facial erythema Cerebral visual impairment Postnatal microcephaly Lethargy EEG abnormality Difficulty walking Ataxia Poor gross motor coordination EEG with burst suppression Abnormal globus pallidus morphology Generalized tonic seizures Sloping forehead Deeply set eye Chorea Developmental regression Thin upper lip vermilion Cerebral cortical atrophy Midface retrusion Long philtrum Abnormal facial shape Hypertelorism Atypical absence seizures Neonatal hypotonia Generalized-onset seizure Bruxism Atonic seizures Infantile spasms Stereotypy Respiratory distress Respiratory insufficiency Cognitive impairment Decreased fetal movement Abnormality of movement Cerebral palsy Cerebellar hypoplasia Growth delay Babinski sign Cerebellar atrophy Ventriculomegaly Thin eyebrow Prominent nasal bridge Wide mouth Gastroesophageal reflux Progressive spastic quadriplegia Overlapping toe Progressive neurologic deterioration Intellectual disability, profound Spastic tetraplegia Increased serum lactate Gliosis Tetraplegia Elevated serum creatine phosphokinase Delayed ability to walk Limb tremor


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