Generalized hypotonia, and Bradycardia

Diseases related with Generalized hypotonia and Bradycardia

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

Top matches:

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Feeding difficulties
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, INFANTILE; SCFI

Other less relevant matches:

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

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Cerebellar atrophy
  • Hypertonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOYL TRANSFERASE 1 DEFICIENCY

Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

High match USP18 DEFICIENCY

Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hepatomegaly
  • Ventriculomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about USP18 DEFICIENCY

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Lactic acidosis Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Arrhythmia Feeding difficulties Increased serum lactate

Rare Symptoms - Less than 30% cases

Metabolic acidosis Muscle weakness Fatigue Myotonia Hypertension Severe lactic acidosis Lethargy Respiratory failure Abnormality of mitochondrial metabolism Hepatomegaly Feeding difficulties in infancy Cerebellar hypoplasia Patent ductus arteriosus Cerebellar atrophy Elevated hepatic transaminase Hypertrophic cardiomyopathy Stridor Congestive heart failure Cardiomyopathy Delayed speech and language development Sick sinus syndrome Decreased liver function Umbilical hernia Ectopic thyroid Astrocytosis Motor deterioration Hypoplastic left heart Neonatal respiratory distress Neuronal loss in central nervous system Increased thyroid-stimulating hormone level Epileptic encephalopathy Polyneuropathy Mental deterioration Neonatal hypotonia Hoarse cry EEG abnormality Thyroid agenesis Decreased activity of mitochondrial respiratory chain Large posterior fontanelle Thyroid dysgenesis Encephalopathy Respiratory distress Dysphagia Intrauterine growth retardation Abdominal distention Scoliosis Increased total bilirubin Cardiorespiratory arrest Weak cry Mutism Spastic tetraparesis Macroglossia Thyroid hypoplasia Hypothyroidism Tetraparesis Constipation Delayed skeletal maturation Carcinoma Muscular hypotonia Growth hormone deficiency Growth delay Short stature Dilation of lateral ventricles Petechiae Cerebral hemorrhage Intracranial hemorrhage Abnormal vertebral morphology Aspiration Microcephaly Pachygyria Heterotopia Cerebral calcification Ascites Polymicrogyria Hyperbilirubinemia Goiter Spondyloepiphyseal dysplasia Hepatosplenomegaly Congenital hypothyroidism Thrombocytopenia Hypothermia Dry skin Ventriculomegaly Generalized neonatal hypotonia Pulmonary arterial hypertension Vomiting Muscle stiffness Cyanosis Paralysis Apnea Myalgia Elevated serum creatine phosphokinase Fever Myocardial fibrosis Myocarditis Nemaline bodies Cardiac arrest Otitis media Dilated cardiomyopathy Myopathy Periodic paralysis Failure to thrive Patent foramen ovale Abnormal electroretinogram Hypsarrhythmia Retinal degeneration Absent speech Nystagmus Receptive language delay Sinus bradycardia Keratoconus Attention deficit hyperactivity disorder Hyperactivity Intellectual disability, mild Motor delay Skeletal muscle hypertrophy Respiratory arrest Abnormality of extrapyramidal motor function Areflexia Delayed myelination Coma Abnormality of the cerebral white matter Abnormality of the liver Developmental regression Muscular hypotonia of the trunk Jaundice Cerebral cortical atrophy Dystonia Hypertonia Epiphyseal stippling Polycystic kidney dysplasia Flat face High forehead Dilatation Laryngospasm Wide nasal bridge Low-set ears Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Poor appetite Ragged-red muscle fibers Decreased fetal movement Polyhydramnios Abdominal pain Edema Pain Apneic episodes in infancy Thyroid hemiagenesis


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