Generalized hypotonia, and Sudden cardiac death

Diseases related with Generalized hypotonia and Sudden cardiac death

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

Top matches:

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lcad

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Other less relevant matches:

Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

High match BARTH SYNDROME

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

High match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Sudden cardiac death

Symptoms // Phenotype % cases
Myopathy Very Common - Between 80% and 100% cases
Muscular hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Sudden cardiac death. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Arrhythmia

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy

Common Symptoms - More than 50% cases

Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia Exercise intolerance Proximal muscle weakness Elevated serum creatine phosphokinase Hyperammonemia Skeletal muscle atrophy Ventricular arrhythmia Acidosis Lethargy Behavioral abnormality Hepatic steatosis Difficulty climbing stairs Limb-girdle muscular dystrophy Hepatomegaly EMG: myopathic abnormalities Seizures Muscular dystrophy Hyperlordosis Flexion contracture Nonketotic hypoglycemia Feeding difficulties Waddling gait Decreased plasma carnitine Cardiac arrest Diarrhea Encephalopathy Autistic behavior Myalgia Vomiting Edema Cognitive impairment Hepatic failure Decreased liver function Coma Cardiomegaly Hepatocellular necrosis Limb muscle weakness Dyspnea Reduced tendon reflexes Failure to thrive Dicarboxylic aciduria Limb-girdle muscle weakness Gait disturbance Bradycardia Atrioventricular block Difficulty walking Syncope Respiratory insufficiency Wide nasal bridge Exertional dyspnea Scoliosis Proximal lower limb amyotrophy Intellectual disability Global developmental delay Calf muscle hypertrophy

Rare Symptoms - Less than 30% cases

Dilatation Motor delay Metabolic acidosis Lactic acidosis Hepatosplenomegaly Autism Hyperactivity Constipation Pneumonia Pain Elevated creatine kinase after exercise Exercise-induced rhabdomyolysis Exercise-induced myoglobinuria Myoglobinuria Recurrent infections Hypertension Toe walking Pectus excavatum Patent ductus arteriosus Facial palsy Falls Progressive muscle weakness Congenital muscular dystrophy Depressivity Myotonia Generalized edema Peripheral neuropathy Myopathic facies Round face Shoulder girdle muscle weakness Hydrops fetalis Proximal muscle weakness in lower limbs Hyporeflexia Shoulder girdle muscle atrophy Abnormal heart morphology Talipes equinovarus Stroke Specific learning disability Proximal muscle weakness in upper limbs Knee flexion contracture Left ventricular hypertrophy Abnormal atrioventricular conduction Achilles tendon contracture Ankle contracture Elbow flexion contracture Hypertriglyceridemia Limb-girdle muscle atrophy Hypoketotic hypoglycemia Sepsis Ventricular tachycardia Fatigue Elevated hepatic transaminase Lipodystrophy Difficulty running Abnormality of the liver Feeding difficulties in infancy Atrial fibrillation Hypothermia Midface retrusion Muscle stiffness Tachypnea Prolonged QT interval Generalized muscle weakness Atrial arrhythmia Neonatal hypotonia Ventricular hypertrophy Fatigable weakness Talipes Recurrent aphthous stomatitis Left ventricular noncompaction Left ventricular failure Abnormality of dental color Neutropenia Abnormality of mitochondrial metabolism Full cheeks Organic aciduria Easy fatigability Mitochondrial myopathy Aciduria Eczema Poor appetite Atrioventricular dissociation Spontaneous abortion Recurrent bacterial infections T-wave alternans Delayed puberty Sinusitis Ophthalmoplegia Gastroparesis Hypokalemia Gowers sign Abnormality of color vision Hypoventilation Abnormal EKG Male pseudohermaphroditism Chromosome breakage Congenital stationary night blindness Breech presentation Gastrointestinal dysmotility Intestinal pseudo-obstruction Muscle fiber necrosis Broad forehead Calf muscle pseudohypertrophy Hemiatrophy Nocturnal hypoventilation Red-green dyschromatopsia Absent muscle dystrophin expression Short stature Growth delay Respiratory distress Mandibular prognathia Osteopenia Deeply set eye Protruding ear Macrotia Abnormality of neutrophils Skeletal myopathy Joint hypermobility Gastroesophageal reflux Thin upper lip vermilion Abnormal cardiac septum morphology Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures 2-3 toe syndactyly Hip dislocation Carious teeth Toe syndactyly Hypoplasia of the maxilla Prominent forehead Chest pain Ventricular fibrillation Obsessive-compulsive behavior Microdontia Patent foramen ovale Tetralogy of Fallot Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Pulmonary arterial hypertension Abnormality of the face Hypoplasia of dental enamel Hypocalcemia Hypothyroidism Abnormality of cardiovascular system morphology Endocardial fibroelastosis Cyclic neutropenia Frontal balding Abnormality of the mitochondrion Hypocholesterolemia 3-Methylglutaconic aciduria Biventricular hypertrophy Granulocytopenia Abnormal endocardium morphology Prolonged QTc interval Pyoderma Monocytosis Abnormal mitochondrial morphology Abnormal mitochondrial shape Agranulocytosis Increased mitochondrial number Immunodeficiency Recurrent infections in infancy and early childhood Intermittent lactic acidemia Hypertelorism Abnormal facial shape Cutaneous syndactyly of toes Torsade de pointes Low-set ears Depressed nasal bridge Myopia Dysphagia Ventricular septal defect Abnormality of the dentition Perimembranous ventricular septal defect Syndactyly Esotropia Joint stiffness Macroglossia Fetal akinesia sequence Drowsiness Cardiorespiratory arrest Exercise-induced myalgia Respiratory arrest Polyhydramnios Arthrogryposis multiplex congenita Cirrhosis Ascites Decreased fetal movement Hepatic fibrosis Portal hypertension Akinesia Esophageal varix Pericardial effusion Tubulointerstitial fibrosis Limb joint contracture Renal insufficiency Thrombocytopenia Increased serum lactate Infantile muscular hypotonia Acute hepatic failure Severe lactic acidosis Cerebral edema Prolonged prothrombin time Proximal tubulopathy Microvesicular hepatic steatosis Rhabdomyolysis Muscle cramps Macrovesicular hepatic steatosis Renal tubular acidosis Pelvic girdle muscle weakness Abnormal echocardiogram Sick sinus syndrome Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Neurological speech impairment Hyperbilirubinemia Hyperlipidemia Hemiplegia/hemiparesis Loss of consciousness Elevated serum creatinine Irritability Conjugated hyperbilirubinemia Prenatal maternal abnormality Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Transient hyperlipidemia Prolonged neonatal jaundice Atrial flutter Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mild expressive language delay Atrial septal defect Decreased activity of mitochondrial respiratory chain Decreased activity of mitochondrial complex I Distal amyotrophy Intellectual disability, severe Peroneal muscle atrophy Left anterior fascicular block Peroneal muscle weakness Ventricular escape rhythm Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Proximal spinal muscular atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Absent muscle fiber emerin Delayed speech and language development Blindness Supraventricular arrhythmia Intellectual disability, mild Cerebral atrophy Recurrent respiratory infections Respiratory failure EEG abnormality Abnormality of the eye Respiratory tract infection Scarring Distal muscle weakness Nyctalopia Attention deficit hyperactivity disorder Cough Increased LDL cholesterol concentration Distal lower limb muscle weakness Increased lactate dehydrogenase activity Palpitations Elevated plasma acylcarnitine levels Cerebellar hemorrhage Ptosis High palate Kyphosis Obesity Pes cavus Rigidity Lower limb muscle weakness Ichthyosis Vertigo Myocardial infarction Frequent falls Distal lower limb amyotrophy Scapular winging Respiratory insufficiency due to muscle weakness Back pain Spinal muscular atrophy Mildly elevated creatine phosphokinase Spinal rigidity Rimmed vacuoles Sprengel anomaly Heart block Progressive proximal muscle weakness Vocal cord paralysis Proximal amyotrophy Abnormal direction of ventricular apex


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