Generalized hypotonia, and Pallor

Diseases related with Generalized hypotonia and Pallor

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Pallor 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

Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.

HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY Is also known as hbsl|aspartyl-trna synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

Other less relevant matches:

Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum 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
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MYOCLONUS, INTRACTABLE, NEONATAL; NEIMY

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia

Rare Symptoms - Less than 30% cases

Fever Diarrhea Skeletal muscle atrophy Respiratory insufficiency Hyporeflexia Hemolytic anemia Polyneuropathy Increased CSF protein Cough Rigidity Ventriculomegaly Ataxia Cerebellar atrophy Cerebral atrophy Encephalopathy Leukoencephalopathy Jaundice Hepatomegaly Delayed myelination Abnormality of mitochondrial metabolism Ptosis Global developmental delay Gliosis Spasticity Febrile seizures Generalized tonic-clonic seizures Motor delay Cyanosis Hypoplasia of the corpus callosum Generalized-onset seizure Dyskinesia Sideroblastic anemia Mild microcephaly Hypoplasia of the pons Intermittent jaundice Abnormality of visual evoked potentials Amblyopia Congenital microcephaly Broad finger Long eyelashes Dilatation Hepatic steatosis Frequent falls Cerebellar hypoplasia Low posterior hairline Optic disc pallor Congenital hemolytic anemia Increased red cell osmotic fragility Wide intermamillary distance Astigmatism Thin upper lip vermilion Long philtrum Downslanted palpebral fissures Delayed speech and language development High palate Strabismus Acute necrotizing encephalopathy Thrombocytopenia Aciduria Stomatocytosis Eyelid myoclonus Lactic acidosis Dehydration Hydrops fetalis Hyperbilirubinemia Respiratory tract infection Brittle hair Hepatosplenomegaly Abdominal pain Splenomegaly Edema Pulmonary fibrosis Pain Absence seizures with eyelid myoclonia Methylmalonic aciduria Poikilocytosis Necrotizing encephalopathy Increased antibody level in blood Reticulocytosis Anisocytosis Spherocytosis Megaloblastic anemia Central hypotonia Poor head control Absence seizures Postnatal microcephaly Cerebellar vermis hypoplasia Pancytopenia Neuronal loss in central nervous system Nephropathy Polyneuritis Gait disturbance Abnormal muscle tone Abnormality of the cerebral white matter Absent speech Paroxysmal nocturnal hemoglobinuria Hemoglobinuria Hemolytic-uremic syndrome Peripheral demyelination Hematuria Limb muscle weakness Paralysis Respiratory failure Areflexia Muscle weakness CNS hypomyelination Lower limb spasticity Muscular hypotonia of the trunk Sleep disturbance Babinski sign Intellectual disability, mild Hyperreflexia Focal seizures, afebril Loss of consciousness Focal impaired awareness seizure Choreoathetosis Focal-onset seizure Migraine Generalized tonic-clonic seizures with focal onset Drowsiness Abnormality of the nervous system Muscular hypotonia Rod-cone dystrophy Epileptic encephalopathy Acute encephalopathy Visual impairment Abducens palsy Abnormal posturing Cerebral edema Severe vision loss Encephalitis Foot dorsiflexor weakness Hallucinations Spastic tetraplegia Tetraplegia Coma Pneumonia Hypertonia Vomiting Progressive leukoencephalopathy Hypsarrhythmia Developmental stagnation Athetosis Cerebral visual impairment Chorea Generalized myoclonic seizures Abnormality of eye movement Apnea Abnormality of the eye Myoclonus Dysphagia Hearing impairment Profound global developmental delay Poor eye contact Status epilepticus Increased intracellular sodium


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