Flexion contracture, and Bradycardia

Diseases related with Flexion contracture and Bradycardia

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

Top matches:

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

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

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

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

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

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 Flexion contracture and Bradycardia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Respiratory insufficiency Seizures Neonatal hypotonia High palate Depressed nasal bridge Sudden cardiac death Global developmental delay Elbow flexion contracture Atrioventricular block Abnormal facial shape Muscle weakness Proximal muscle weakness Wide nasal bridge Scoliosis Myopathy Atrial fibrillation Ptosis Limb-girdle muscle weakness Achilles tendon contracture Hypertrophic cardiomyopathy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Pectus excavatum Encephalopathy Intellectual disability Kyphosis Type 1 muscle fiber atrophy Ventriculomegaly Apnea Ankle contracture Hypertelorism Downslanted palpebral fissures EMG: myopathic abnormalities Hyperlordosis Dilated cardiomyopathy Syncope Waddling gait Elevated serum creatine phosphokinase Skeletal muscle atrophy Proximal amyotrophy Gait disturbance Lipodystrophy Limb-girdle muscular dystrophy

Rare Symptoms - Less than 30% cases

Pneumonia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Back pain Distal lower limb amyotrophy Vocal cord paralysis Sprengel anomaly Toe walking Myotonia Rimmed vacuoles Congenital muscular dystrophy Facial palsy Increased LDL cholesterol concentration Ventricular arrhythmia Spinal rigidity Supraventricular arrhythmia Proximal upper limb amyotrophy Peroneal muscle atrophy Recurrent respiratory infections Joint laxity Micrognathia Respiratory insufficiency due to muscle weakness Microcephaly Brain atrophy Thin vermilion border Joint hypermobility Respiratory tract infection Biventricular hypertrophy Ventricular escape rhythm Hypoplasia of the corpus callosum Hyperreflexia Rigidity Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Prominent forehead Peroneal muscle weakness Round face Reduced tendon reflexes Shoulder girdle muscle weakness Scapular winging Pelvic girdle muscle weakness Growth delay Ventricular tachycardia Limb-girdle muscle atrophy Difficulty walking Talipes equinovarus Areflexia Midface retrusion Scarring Exertional dyspnea Palpitations Calf muscle hypertrophy Difficulty running Abnormal atrioventricular conduction Progressive muscle weakness Hypertriglyceridemia Ichthyosis Joint stiffness Obesity Short neck Cardiomyopathy Knee flexion contracture Atrial arrhythmia Difficulty climbing stairs Increased variability in muscle fiber diameter Myopathic facies Cystic hygroma T-wave alternans Centrally nucleated skeletal muscle fibers Distal arthrogryposis Exercise-induced myalgia Severe postnatal growth retardation Bell-shaped thorax Facial diplegia Fetal akinesia sequence Nemaline bodies Type 1 muscle fiber predominance Increased connective tissue Axial muscle weakness 3-Methylglutaconic aciduria Increased nuchal translucency Abnormality of dental color Muscle fiber necrosis Generalized limb muscle atrophy Functional respiratory abnormality Bilateral cryptorchidism Narrow face Mask-like facies Dolichocephaly Proximal spinal muscular atrophy Cleft palate Cryptorchidism Motor delay Respiratory distress Edema Clinodactyly Atrioventricular dissociation Respiratory failure Micropenis Polyhydramnios Kyphoscoliosis Feeding difficulties in infancy Prominent nasal bridge Arthrogryposis multiplex congenita Akinesia Ophthalmoplegia Pulmonary hypoplasia Single transverse palmar crease Generalized muscle weakness Webbed neck Aciduria Cyanosis Decreased fetal movement Hydrops fetalis Internally nucleated skeletal muscle fibers External ophthalmoplegia Scrotal hypoplasia Tented upper lip vermilion Pterygium Minicore myopathy Dysphagia Muscle fiber hypertrophy Bronchitis Esotropia Microdontia Torsade de pointes Perimembranous ventricular septal defect Tetralogy of Fallot Cardiomegaly Hypothermia Pulmonary arterial hypertension Amelogenesis imperfecta Protruding tongue Scapuloperoneal amyotrophy Cutaneous finger syndactyly Hypoplasia of dental enamel Coma Mixed hearing impairment Sinusitis Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Cardiac arrest Hypocalcemia Patent foramen ovale Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Hypoplasia of the maxilla Toe syndactyly Rectus femoris muscle atrophy Abnormality of cardiovascular system morphology Tibialis atrophy Frog-leg posture Sternocleidomastoid amyotrophy Abnormal muscle morphology Type 1 and type 2 muscle fiber minicore regions Cognitive impairment Myopia Ventricular septal defect Abnormality of the dentition Behavioral abnormality Syndactyly Immunodeficiency Recurrent infections Depressivity Cutaneous syndactyly of toes Patent ductus arteriosus Abnormal heart morphology Constipation Autism Hypothyroidism Frontal balding Gastroesophageal reflux Thin upper lip vermilion Hypoglycemia Autistic behavior Abnormal cardiac septum morphology Hip dislocation Carious teeth Abnormality of the face Prominence of the premaxilla Left anterior fascicular block Dilatation Erythema Skin rash Severe global developmental delay Micromelia Abnormal intestine morphology Hyperammonemia CNS hypomyelination Lower limb hyperreflexia Periventricular cysts Subependymal cysts Necrolytic migratory erythema Long philtrum Hernia Short nose Inguinal hernia Proptosis Abnormality of the pinna Arachnodactyly Bulbous nose Recurrent fractures Convex nasal ridge Overgrowth Oligohydramnios Congenital diaphragmatic hernia Spina bifida Joint dislocation Camptodactyly Diarrhea Cutis laxa Hyperhidrosis Neck muscle weakness Ventricular hypertrophy Left ventricular hypertrophy Abnormal echocardiogram Sick sinus syndrome Paroxysmal supraventricular tachycardia Fatiguable weakness of proximal limb muscles Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Pain Peripheral neuropathy Fever Tachycardia Anteverted nares Sensory neuropathy Open mouth Short chin Hand clenching Corneal scarring Alacrima Limited hip extension Blotching pigmentation of the skin Reduced ejection fraction Sinus bradycardia Tip-toe gait Pelvic girdle muscle atrophy Weakness of facial musculature Narrow palpebral fissure Aortic aneurysm Shoulder girdle muscle atrophy Hypoplasia of the frontal lobes Cerebral visual impairment Progressive microcephaly Clonus Abnormal autonomic nervous system physiology Abnormality of mitochondrial metabolism Global brain atrophy Dysphasia Muscle fibrillation Mild microcephaly Limb joint contracture Myoclonic spasms Multifocal seizures Uplifted earlobe Narrow forehead Congestive heart failure Pes cavus Dyspnea Limb muscle weakness Lower limb muscle weakness Vertigo Falls Myocardial infarction Frequent falls Spinal muscular atrophy Mildly elevated creatine phosphokinase Heart block Progressive proximal muscle weakness Status epilepticus Neuronal loss in central nervous system Emphysema Spasticity Aortic root aneurysm Soft skin Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Narrow naris Arterial tortuosity Intussusception Multiple joint dislocation Pulmonary artery aneurysm Generalized arterial tortuosity Pulmonary artery dilatation Visual impairment Epileptic encephalopathy Optic atrophy Cerebellar atrophy Hypertonia Babinski sign Myoclonus Upslanted palpebral fissure Macrotia EEG abnormality Muscular hypotonia of the trunk Dry skin Generalized myoclonic seizures Gliosis Delayed myelination Abnormal direction of ventricular apex


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