Feeding difficulties, and Generalized tonic-clonic seizures

Diseases related with Feeding difficulties and Generalized tonic-clonic seizures

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Generalized tonic-clonic seizures that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C Is also known as mocod type c|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C

Other less relevant matches:

Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.

ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY Is also known as prosaposin deficiency|combined sap deficiency|psapd|combined prosaposin deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY DUE TO PROSAPOSIN DEFICIENCY

Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).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, 11; EIEE11

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Encephalopathy due to defective mitochondrial and peroxisomal fission-1 is characterized by delayed psychomotor development and hypotonia that may lead to death in childhood. Many patients develop refractory seizures, consistent with an epileptic encephalopathy, and thereafter show neurologic decline. The age at onset, features, and severity are variable, and some patients may not have clinical evidence of mitochondrial or peroxisomal dysfunction (summary by Sheffer et al., 2016; Fahrner et al., 2016). Genetic Heterogeneity of Encephalopathy Due to Defective Mitochondrial And Peroxisomal FissionSee also EMPF2 (OMIM ), caused by mutation in the MFF gene (OMIM ) on chromosome 2q36.

DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as empf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNM1L-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

Top 5 symptoms//phenotypes associated to Feeding difficulties and Generalized tonic-clonic seizures

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

Other less frequent symptoms

Patients with Feeding difficulties and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Intellectual disability Myoclonus Cerebral atrophy Absent speech Epileptic encephalopathy Postnatal microcephaly Difficulty walking Hepatomegaly Recurrent respiratory infections Febrile seizures Optic atrophy Failure to thrive Hyperreflexia Muscular hypotonia of the trunk Dystonia Low-set ears Pain Delayed myelination Respiratory insufficiency Hypsarrhythmia Ataxia Spasticity

Rare Symptoms - Less than 30% cases

Abnormality of eye movement Muscle weakness Dysarthria Clumsiness Babinski sign Hypotelorism Hypoglycemia Bradycardia Apraxia Respiratory tract infection Muscular hypotonia Vomiting Status epilepticus Abnormality of the nervous system Splenomegaly Neonatal hypotonia Hepatosplenomegaly Peripheral demyelination Drooling Atonic seizures Delayed speech and language development Infantile spasms Inability to walk Abnormality of the cerebral white matter Hypertonia Lethargy EEG abnormality Generalized myoclonic seizures Immunodeficiency Decreased carnitine level in liver Nystagmus Respiratory failure Recurrent infections Athetosis Macrotia Retrognathia Smooth philtrum Abnormality of mitochondrial metabolism Neutropenia Abnormal bleeding Albinism Pneumonia Irregular respiration Reduced muscle carnitine level Recurrent hypoglycemia Diffuse cerebral atrophy Delayed gross motor development Easy fatigability Decreased muscle mass Neck muscle weakness Ketonuria Excessive daytime somnolence Hypoketotic hypoglycemia Impaired gluconeogenesis Decreased plasma carnitine Skeletal myopathy Dysphasia Endocardial fibroelastosis Fasting hypoglycemia Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Interstitial pulmonary abnormality Pierre-Robin sequence Ragged-red muscle fibers Developmental regression Open mouth Paraparesis Dysmetria Hyperbilirubinemia Laryngomalacia Abnormal pyramidal sign Impulsivity Attention deficit hyperactivity disorder Mental deterioration Deeply set eye Acidosis Inverted nipples Pontocerebellar atrophy Ganglioneuroblastoma Strabismus Lactic acidosis Protruding ear Arachnoid cyst Long philtrum Areflexia Ocular albinism Oculomotor apraxia High palate Depressed nasal bridge Anteverted nares Hydrocephalus Upslanted palpebral fissure Increased serum lactate Hypothyroidism Pointed chin Thin upper lip vermilion Apnea Horizontal nystagmus Broad thumb Decreased fetal movement Hyperammonemia Hyponatremia Left ventricular hypertrophy Narrow forehead Hypouricemia Increased urinary taurine Molybdenum cofactor deficiency Sulfite oxidase deficiency Tremor Spastic paraplegia Broad-based gait Poor eye contact Severe muscular hypotonia Progressive spasticity Abnormal CNS myelination Nasogastric tube feeding in infancy Cerebral cortical atrophy Neuronal loss in central nervous system Fasciculations Hypoplasia of the pons Opisthotonus Abnormality of the periventricular white matter Dyskinesia Cognitive impairment Respiratory distress Involuntary movements Stereotypy Bruxism Visual impairment Blindness Cerebral visual impairment Poor head control Brisk reflexes Congenital microcephaly Limb myoclonus Cerebellar hypoplasia Polymicrogyria Generalized-onset seizure Spontaneous abortion Hyperkinesis Astrocytosis Ventricular hypertrophy Elevated hepatic transaminase Cardiomyopathy Myopathy Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Abdominal pain Hypertrophic cardiomyopathy Fever Feeding difficulties in infancy Irritability Dilated cardiomyopathy Confusion Hepatic steatosis Coma Cardiomegaly Fatigue Excessive daytime sleepiness CNS demyelination Brain atrophy Abnormality of glycosphingolipid metabolism Generalized clonic seizures Edema Cerebellar atrophy Headache Abnormality of the eye Paralysis Cerebral calcification Megalencephaly Spastic tetraplegia Progressive microcephaly Slurred speech Back pain Language impairment Global brain atrophy Hyperventilation Profound global developmental delay


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