Myopathy, and Abnormal cardiac septum morphology

Diseases related with Myopathy and Abnormal cardiac septum morphology

In the following list you will find some of the most common rare diseases related to Myopathy and Abnormal cardiac septum morphology that can help you solving undiagnosed cases.

Top matches:

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Other less relevant matches:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome|myh7-related late-onset spmd

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Gait disturbance
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY Is also known as gyg1 deficiency|glycogen storage disease type xv|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogenin deficiency|gsd type 15|glycogen storage disease type 15|glycogenosis type 15|glycogenosis type xv|gsd xv|gsd type xv|gsd with

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Respiratory distress
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE WITH SEVERE CARDIOMYOPATHY DUE TO GLYCOGENIN DEFICIENCY

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

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

Top 5 symptoms//phenotypes associated to Myopathy and Abnormal cardiac septum morphology

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Myopathy and Abnormal cardiac septum morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Atrial septal defect Dilated cardiomyopathy Elevated serum creatine phosphokinase Motor delay Cardiomegaly Neonatal hypotonia Myopathic facies EMG: myopathic abnormalities Facial palsy

Rare Symptoms - Less than 30% cases

Skeletal myopathy Muscle cramps Arthrogryposis multiplex congenita Centrally nucleated skeletal muscle fibers Scapular winging Heart murmur Abnormal levels of creatine kinase in blood Abnormal myocardium morphology Upper limb muscle weakness Shoulder girdle muscle weakness Endocardial fibroelastosis Mitochondrial depletion Histiocytoid cardiomyopathy Myoglobinuria Hyperactivity Congenital muscular dystrophy Increased endomysial connective tissue Hepatic steatosis Sudden cardiac death Cardiac arrest Flexion contracture Ventricular fibrillation Left ventricular noncompaction Increased mitochondrial number Intellectual disability Muscular dystrophy Ventricular tachycardia Foot dorsiflexor weakness Scoliosis Peripheral axonal neuropathy Pericardial effusion Delayed speech and language development Exercise intolerance Global developmental delay Exertional dyspnea Increased variability in muscle fiber diameter Abnormal ventricular filling Diabetes mellitus Abnormality of the foot musculature Limited neck flexion Limited wrist extension Decreased Achilles reflex Triceps weakness Vertigo Beevor's sign Cardiorespiratory arrest Rhabdomyolysis Decreased patellar reflex Hypothyroidism Hypoketotic hypoglycemia Limitation of movement at ankles Peripheral neuropathy Respiratory distress Drowsiness Decreased plasma carnitine Exercise-induced myalgia Muscle fiber splitting Steppage gait Hepatocellular necrosis Exercise-induced myoglobinuria Nonketotic hypoglycemia Chronic obstructive pulmonary disease Distal lower limb muscle weakness Left ventricular failure Dicarboxylic aciduria Hand muscle weakness Tibialis muscle weakness Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Respiratory arrest Upper limb amyotrophy Left anterior fascicular block Limited hip movement Enlargement of the ankles Limited shoulder movement Hyperammonemia Tachycardia Decreased liver function Tachypnea Difficulty running Ptosis Hip dislocation Generalized muscle weakness Webbed neck Knee flexion contracture Radioulnar synostosis Calf muscle hypertrophy Difficulty climbing stairs Ankle contracture Hepatosplenomegaly Cleft soft palate Minicore myopathy Muscular hypotonia Acidosis Pain Hepatomegaly Vomiting Autism Behavioral abnormality Hypertelorism Decreased muscle glycogen content Muscle stiffness Metabolic acidosis Encephalopathy Coma Ventricular hypertrophy Palpitations Ventricular arrhythmia Right bundle branch block Bundle branch block Decreased muscle mass Abnormal EKG Lethargy Hypoglycemia T-wave inversion Neck flexor weakness Autistic behavior ST segment elevation Abdominal wall muscle weakness Irritability Hypertrophic cardiomyopathy Cardiomyocyte hypertrophy Myalgia Left ventricular septal hypertrophy Attention deficit hyperactivity disorder Reduced tendon reflexes Fetal akinesia sequence Respiratory insufficiency due to muscle weakness Dilation of lateral ventricles Micrognathia Cleft palate High palate Respiratory insufficiency Distal muscle weakness Narrow chest Akinesia Breech presentation Open mouth Progressive distal muscle weakness Ventriculomegaly Edema Dilatation Abnormality of metabolism/homeostasis Pneumonia Dyspnea Inability to walk Ascites Severe muscular hypotonia Decreased fetal movement Eosinophilia Reduced ejection fraction Diarrhea Constipation Paresthesia Atrial fibrillation Impotence Orthostatic hypotension Heart block Edema of the lower limbs Right ventricular hypertrophy Abnormal echocardiogram Long face Atrial arrhythmia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Orthostatic syncope Strabismus Cryptorchidism Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Syncope Atrioventricular block Abnormality of the cardiovascular system Frequent falls Skeletal muscle atrophy Intellectual disability, mild Hyporeflexia Proximal muscle weakness Poor speech Ichthyosis Falls Waddling gait Mitral valve prolapse Infantile muscular hypotonia Seizures Gowers sign Mildly elevated creatine phosphokinase Difficulty standing Hypertension Gait disturbance Pes cavus Pes planus Difficulty walking Hyperlordosis Microcephaly Acute tubular necrosis Myocardial fibrosis Hydrocephalus Restrictive cardiomyopathy Pulmonary edema Myofibrillar myopathy Abnormality of the mitochondrion Abnormal left ventricle morphology Abnormality of cardiovascular system physiology Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Abnormal mitochondrial number Microphthalmia Hypoplasia of the retina Agenesis of corpus callosum Corneal opacity Hypoplastic left heart Congenital glaucoma Supraventricular tachycardia Wolff-Parkinson-White syndrome Peters anomaly Abnormal atrioventricular conduction Decreased activity of mitochondrial complex I Exercise-induced rhabdomyolysis


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