Muscle weakness, and Sudden cardiac death

Diseases related with Muscle weakness and Sudden cardiac death

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

Top matches:

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1I; CMD1I

Medium match DESMINOPATHY

Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

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

BECKER MUSCULAR DYSTROPHY Is also known as bmd|becker dystrophinopathy

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about BECKER MUSCULAR DYSTROPHY

Other less relevant matches:

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

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

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

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

Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Top 5 symptoms//phenotypes associated to Muscle weakness and Sudden cardiac death

Symptoms // Phenotype % cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertrophic cardiomyopathy Skeletal muscle atrophy Generalized hypotonia EMG: myopathic abnormalities Muscular dystrophy Proximal muscle weakness Hepatomegaly Myalgia Congestive heart failure Muscular hypotonia Hepatic steatosis Rhabdomyolysis Flexion contracture Lethargy Difficulty walking Cardiac arrest Tachypnea Decreased plasma carnitine Dicarboxylic aciduria Exercise-induced myoglobinuria Hepatocellular necrosis Proximal muscle weakness in upper limbs Exercise intolerance Difficulty climbing stairs Hyperlordosis Waddling gait Atrioventricular block Cardiomegaly Reduced tendon reflexes Vomiting Atrial fibrillation Myoglobinuria Feeding difficulties Limb-girdle muscular dystrophy

Rare Symptoms - Less than 30% cases

Hypoglycemia Encephalopathy Irritability Failure to thrive Prolonged QT interval Scoliosis Hepatic failure Autistic behavior Decreased liver function Hepatosplenomegaly Exercise-induced rhabdomyolysis Nonketotic hypoglycemia Hyperammonemia Muscle stiffness Proximal lower limb amyotrophy Fatigue Atrial arrhythmia Achilles tendon contracture Exertional dyspnea Lipodystrophy Elbow flexion contracture Gait disturbance Intellectual disability Hypoketotic hypoglycemia Limb-girdle muscle atrophy Muscle cramps Skeletal myopathy Respiratory insufficiency due to muscle weakness Limb-girdle muscle weakness Ventricular tachycardia Proximal muscle weakness in lower limbs Calf muscle hypertrophy Toe walking Myotonia Ventricular hypertrophy Left ventricular hypertrophy Diarrhea Ventricular escape rhythm Atrial flutter Dyspnea Edema Talipes equinovarus Cardiorespiratory arrest Hyporeflexia Polyhydramnios Peripheral neuropathy Hypertension Respiratory arrest Abnormality of the liver Exercise-induced myalgia Metabolic acidosis Drowsiness Pain Reduced systolic function Prolonged neonatal jaundice Fatigable weakness Hypothermia Elevated creatine kinase after exercise Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Mild expressive language delay Atrial septal defect Pericardial effusion Behavioral abnormality Hyperactivity Autism Acidosis Hypotension Limb muscle weakness Coma Arthrogryposis multiplex congenita Hydrops fetalis Cirrhosis Heart block Hypertriglyceridemia Scapular winging Back pain Gowers sign Spinal rigidity Rimmed vacuoles Sprengel anomaly Progressive proximal muscle weakness Ichthyosis Vocal cord paralysis Abnormality of the neck Supraventricular arrhythmia Increased LDL cholesterol concentration Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Lumbar hyperlordosis Unsteady gait Ascites Generalized edema Decreased fetal movement Hepatic fibrosis Portal hypertension Akinesia Myopathic facies Fetal akinesia sequence Esophageal varix Tubulointerstitial fibrosis Joint stiffness Limb joint contracture Ptosis Kyphosis Obesity Pectus excavatum Pes cavus Paralysis Generalized muscle weakness Mildly reduced ejection fraction Abnormal muscle fiber lamin A/C Glutaric aciduria Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Testicular dysgenesis Abnormality of the genital system Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Ventricular arrhythmia Falls Elevated hepatic transaminase Abnormality of the lower limb Mitral regurgitation Dehydration Cryptorchidism Reduced muscle dystrophin expression Calf muscle pseudohypertrophy Global developmental delay Ataxia Growth delay Abnormal urinary color Anemia Decreased testicular size Motor delay Intrauterine growth retardation Optic atrophy Hypospadias Hand muscle weakness Postnatal growth retardation Aciduria Nephropathy Progressive muscle weakness Pelvic girdle amyotrophy Ankle contracture Right bundle branch block Bradycardia Knee flexion contracture Distal muscle weakness Facial palsy Difficulty running Constipation Bulbar palsy Pelvic girdle muscle weakness Abnormal atrioventricular conduction Abnormal echocardiogram Sick sinus syndrome Distal upper limb muscle weakness Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Syncope Neonatal hypotonia Pes planus Abnormal levels of creatine kinase in blood Trifascicular block Infantile muscular hypotonia Restrictive heart failure Late-onset proximal muscle weakness Hepatic encephalopathy Left anterior fascicular block Hyporeflexia of lower limbs Midface retrusion Neonatal sepsis Seizures Right ventricular cardiomyopathy Left bundle branch block Wide nasal bridge Neck muscle weakness Respiratory insufficiency Absent muscle fiber emerin


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