Flexion contracture, and Tachycardia

Diseases related with Flexion contracture and Tachycardia

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

Top matches:

Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

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

Other less relevant matches:

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

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

Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

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 Tachycardia

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Muscular dystrophy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Proximal muscle weakness Bradycardia Elevated serum creatine phosphokinase Dilated cardiomyopathy Ventricular tachycardia Seizures Atrial fibrillation Atrioventricular block Respiratory insufficiency Wide nasal bridge Low-set ears Sudden cardiac death Limb-girdle muscular dystrophy Myopathy Cardiomyopathy Short stature Hyperlordosis Myalgia Midface retrusion Syncope Tricuspid regurgitation Intellectual disability Growth delay

Rare Symptoms - Less than 30% cases

Pneumonia Constipation Fever Peripheral neuropathy High palate Patent ductus arteriosus Pain Global developmental delay Joint hypermobility Hypertrophic cardiomyopathy Dilatation Limb muscle weakness Sick sinus syndrome Hypertension Difficulty climbing stairs Lipodystrophy EMG: myopathic abnormalities Hyperhidrosis Short chin Congestive heart failure Dyspnea Right bundle branch block Bundle branch block Mitral regurgitation Pulmonary arterial hypertension Ventricular fibrillation Convex nasal ridge Joint stiffness Osteoporosis Elbow flexion contracture Malar flattening Abnormality of the skeletal system Sinus tachycardia Ventricular arrhythmia Ventricular septal defect Neck muscle weakness Progressive muscle weakness Cardiomegaly Micropenis Pectus excavatum Ventricular hypertrophy Calf muscle hypertrophy Feeding difficulties Ptosis Scapular winging Abnormal facial shape Hypertelorism Lumbar hyperlordosis Waddling gait Muscular hypotonia Cryptorchidism Neonatal hypotonia Skeletal muscle atrophy Spinal rigidity Talipes equinovarus Pes cavus Gait disturbance Hypotension Webbed neck Decreased fetal movement Lymphedema Shock Testicular dysgenesis Elevated circulating luteinizing hormone level Wide nasal base Tachypnea Poor wound healing Abnormal bleeding Abnormality of the ovary Elevated circulating follicle stimulating hormone level Deep philtrum Myotonia Sparse pubic hair Abnormality of the coagulation cascade Myopathic facies Polycystic ovaries Myofiber disarray Sclerodactyly Rigidity Downslanted palpebral fissures Bilateral ptosis Hyperkalemia Hypertonia Bilateral cryptorchidism Precocious puberty Epicanthus Scleroderma Kyphosis Renal insufficiency Abnormality of the testis Secondary amenorrhea Kyphoscoliosis Stroke Primary testicular failure Pectus carinatum Arthrogryposis multiplex congenita Thoracic scoliosis Lactic acidosis Short clavicles Metabolic acidosis Muscle cramps Down-sloping shoulders Poikiloderma Strabismus Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Premature ovarian insufficiency Puberty and gonadal disorders Acidosis Dysphagia Abnormality of the sternum Hypoplasia of dental enamel Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Hypocalcemia Cardiac arrest Sinusitis Abnormality of the face Obsessive-compulsive behavior Tetralogy of Fallot Microdontia Esotropia Round face Hypoplasia of the maxilla Coma Patent foramen ovale 2-3 toe syndactyly Carious teeth Torsade de pointes Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Perimembranous ventricular septal defect Multiple joint contractures Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Prolonged QT interval Toe syndactyly Hip dislocation Rhabdomyolysis Severe lactic acidosis Cognitive impairment Mixed respiratory and metabolic acidosis Long upper lip Congenital ptosis Diaphragmatic eventration Respiratory arrest Breech presentation Myopia Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Myoglobinuria Scaphocephaly Acute kidney injury Depressed nasal bridge Hypergonadotropic hypogonadism Abnormal cardiac septum morphology Prominent forehead Autistic behavior Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Hypothyroidism Autism Abnormal heart morphology Abnormality of the dentition Encephalopathy Depressivity Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Syndactyly Behavioral abnormality Spontaneous abortion Palpitations Increased bone mineral density Paroxysmal supraventricular tachycardia Knee flexion contracture Exertional dyspnea Difficulty running Ankle contracture Limb-girdle muscle weakness Achilles tendon contracture Pelvic girdle muscle weakness Abnormal atrioventricular conduction Abnormal echocardiogram Atrial arrhythmia Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Fatiguable weakness of proximal limb muscles Difficulty walking Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Areflexia Apnea Scarring Sensory neuropathy Open mouth Hand clenching Corneal scarring Alacrima Limited hip extension Blotching pigmentation of the skin Proximal amyotrophy Failure to thrive Left ventricular hypertrophy Reduced muscle fiber merosin Diabetes mellitus Hydrocephalus Atrial septal defect Short nose Posteriorly rotated ears Prominent nasal bridge Bulbous nose Tapered finger Status epilepticus Aganglionic megacolon Abnormal autonomic nervous system physiology Cupped ear Agitation Hyperconvex nail Contractures of the interphalangeal joint of the thumb Motor delay Hyporeflexia Muscle fiber hypertrophy Falls Frequent falls Reduced tendon reflexes Infantile muscular hypotonia Gowers sign Skeletal muscle hypertrophy Generalized amyotrophy Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Moderately reduced ejection fraction Micrognathia Proptosis Telangiectasia Third degree atrioventricular block Hypokinesia Bulbar palsy Rimmed vacuoles Centrally nucleated skeletal muscle fibers Heart block Progressive proximal muscle weakness Ventricular extrasystoles Atrial flutter Restrictive cardiomyopathy Myofibrillar myopathy Skeletal myopathy Hyporeflexia of lower limbs Right ventricular cardiomyopathy Intestinal pseudo-obstruction Late-onset proximal muscle weakness Increased variability in muscle fiber diameter Pica Restrictive heart failure Intellectual disability, mild Hypogonadism Osteopenia Retrognathia Microtia Delayed puberty Arachnodactyly Wide nose Full cheeks Abnormality of the skin Amenorrhea Abnormality of the genital system Mildly elevated creatine phosphokinase Akinesia Abnormality of the ribs Progressive clavicular acroosteolysis Hypertriglyceridemia Dental crowding Insulin resistance Sparse and thin eyebrow Sparse eyelashes Osteolysis Atherosclerosis Reduced subcutaneous adipose tissue Lipoatrophy Delayed closure of the anterior fontanelle Arteriosclerosis Wide cranial sutures Osteolytic defects of the distal phalanges of the hand Spotty hyperpigmentation Abnormality of the forearm Respiratory insufficiency due to muscle weakness Cataract Delayed speech and language development Respiratory distress Diarrhea Respiratory failure Facial palsy Distal muscle weakness Lower limb muscle weakness Paresthesia Vertigo Generalized muscle weakness Chest pain Myocardial infarction Muscle stiffness Abnormal direction of ventricular apex


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