Generalized hypotonia, and Cyanosis

Diseases related with Generalized hypotonia and Cyanosis

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

Nocturnal frontal lobe epilepsy is a childhood-onset focal epilepsy that displays clusters of sleep-related hypermotor seizures (summary by Aridon et al., 2006). Some patients with CHRNA2 mutations may have a slightly different phenotype that is more consistent with a clinical diagnosis of benign familial infantile seizures (BFIS6) (Trivisano et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of nocturnal frontal lobe epilepsy, see ENFL1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 Is also known as epilepsy, familial, with nocturnal wandering and ictal fear

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Behavioral abnormality
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4

Other less relevant matches:

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino 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
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Hyperreflexia
  • Encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Paralysis Uncommon - Between 30% and 50% cases
Generalized-onset seizure Uncommon - Between 30% and 50% cases
Focal-onset seizure Uncommon - Between 30% and 50% cases
Apnea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Febrile seizures Epileptic encephalopathy Fever Generalized tonic-clonic seizures Spasticity Muscular hypotonia

Rare Symptoms - Less than 30% cases

Stridor Encephalopathy Intellectual disability Failure to thrive Aspiration Respiratory tract infection Respiratory distress Weak cry Muscle weakness Drooling Global developmental delay Ataxia Loss of consciousness Abnormality of the nervous system EEG abnormality Dysphagia Pallor Ptosis Focal impaired awareness seizure Myelomeningocele Dysarthria Respiratory failure High forehead Dyspnea Strabismus Polyhydramnios Rigidity Proximal muscle weakness Bulbar signs Laterally extended eyebrow Inspiratory stridor Hearing impairment Cervical myelopathy Hyporeflexia Occipital neuralgia Abnormal facial shape Thick corpus callosum Cavum septum pellucidum Absence seizures Highly arched eyebrow Downslanted palpebral fissures Absent speech Autoimmunity Easy fatigability Arthrogryposis multiplex congenita Pure red cell aplasia Acrocyanosis Raynaud phenomenon Myositis Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Hyperacusis Primary adrenal insufficiency Decreased miniature endplate potentials Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Hashimoto thyroiditis Fatigable weakness Ophthalmoplegia Diplopia Paresthesia Hemolytic anemia Tapered finger Generalized muscle weakness Hepatitis Psychosis Respiratory insufficiency due to muscle weakness Hyperthyroidism Systemic lupus erythematosus Poor suck Rheumatoid arthritis Ophthalmoparesis Bulbar palsy Glycosuria Abnormality of the immune system Syringomyelia Periodic paralysis Partial agenesis of the corpus callosum Abnormal pyramidal sign Hypertrophic cardiomyopathy Acidosis Congestive heart failure Myopathy Cardiomyopathy Respiratory insufficiency Hemiclonic seizures Atypical absence seizures Developmental stagnation Aspiration pneumonia Limb ataxia Status epilepticus Generalized myoclonic seizures Pneumonia Metabolic acidosis Somnambulism Shivering Confusion Myoclonus Dystonia Behavioral abnormality Focal seizures, afebril Choreoathetosis Migraine Dyskinesia Generalized tonic-clonic seizures with focal onset Drowsiness Gliosis Lactic acidosis Increased serum lactate Opisthotonus Muscle stiffness Arnold-Chiari malformation Spina bifida Heterotopia Limb muscle weakness Agenesis of corpus callosum Headache Hydrocephalus Nystagmus Apneic episodes in infancy Laryngospasm Respiratory arrest Skeletal muscle hypertrophy Myotonia Bradycardia Severe muscular hypotonia Myalgia Elevated serum creatine phosphokinase Fatigue Eyelid fasciculation Epileptic spasms Spastic tetraparesis Tetraparesis Hypsarrhythmia Developmental regression Muscular hypotonia of the trunk Hyperreflexia Low-output congestive heart failure Abnormal mitochondrial shape Abnormality of the mitochondrion Single fiber EMG abnormality


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