Fever, and Muscular dystrophy

Diseases related with Fever and Muscular dystrophy

In the following list you will find some of the most common rare diseases related to Fever and Muscular dystrophy that can help you solving undiagnosed cases.

Top matches:

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. [HPO:probinson]

CREATINE PHOSPHOKINASE, ELEVATED SERUM Is also known as cpk, elevated serum|hyperckemia, idiopathic

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Fever
  • Fatigue
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about CREATINE PHOSPHOKINASE, ELEVATED SERUM

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Other less relevant matches:

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE 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

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

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

Top 5 symptoms//phenotypes associated to Fever and Muscular dystrophy

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Proximal muscle weakness Malignant hyperthermia Respiratory insufficiency Flexion contracture Failure to thrive Cardiomyopathy Seizures Arthrogryposis multiplex congenita Generalized muscle weakness Limb muscle weakness Motor delay Global developmental delay Ptosis Respiratory failure Elevated serum creatine phosphokinase Muscle cramps Myalgia Hepatomegaly

Rare Symptoms - Less than 30% cases

Stroke Spinal rigidity Cognitive impairment Feeding difficulties Increased muscle fatiguability Rhabdomyolysis Areflexia Neonatal hypotonia Delayed gross motor development Hypertrophic cardiomyopathy Facial palsy Pain Dilatation Myopathic facies Minicore myopathy Pectus carinatum Short stature Muscular hypotonia Edema Congestive heart failure Pneumonia Rigidity Hyperlordosis Arrhythmia Ventricular hypertrophy Progressive muscle weakness Nasal speech Acidosis Respiratory arrest High palate Decreased fetal movement Splenomegaly Hyperkalemia Limb-girdle muscular dystrophy Kyphoscoliosis Peripheral neuropathy Ventricular fibrillation Lumbar hyperlordosis Lymphedema Shock Progressive proximal muscle weakness Tachypnea Ventricular arrhythmia Deep philtrum Myotonia Abnormality of the coagulation cascade Webbed neck Dilatation of the cerebral artery Abnormality of the sternum Acute kidney injury Difficulty running Osteopenia Scaphocephaly Firm muscles Myoglobinuria Hypotension Abnormal bleeding Exertional dyspnea Abdominal wall muscle weakness Downslanted palpebral fissures Hypertonia Kyphosis Renal insufficiency Malar flattening Shortened PR interval Midface retrusion Pectus excavatum Pes cavus Metabolic acidosis Hyperhidrosis Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Lactic acidosis Tachycardia Joint hypermobility Wolff-Parkinson-White syndrome Thoracic kyphosis Low hanging columella Dyspnea Paralysis Gait disturbance Abnormality of the cardiovascular system Peripheral demyelination Urinary incontinence Macroglossia Dysphagia Epicanthus Headache Conductive hearing impairment Cardiomegaly Muscle fibrillation EEG abnormality Abnormality of metabolism/homeostasis Bilateral ptosis Recurrent respiratory infections Hypoglycemia Lower limb muscle weakness Difficulty walking Halitosis Type II diabetes mellitus Dysphasia Severe lactic acidosis Gastroesophageal reflux Hyperphosphatemia Atrioventricular block Breech presentation Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration Scapular winging Diaphragmatic eventration Abnormal CNS myelination Congenital ptosis Long upper lip Sinus tachycardia Mixed respiratory and metabolic acidosis EMG abnormality Aspiration Hearing impairment Growth delay Emphysema Neck muscle weakness Low-set ears Schistocytosis Gastritis Intermittent jaundice Stomatocytosis Hemoglobinuria Antiphospholipid antibody positivity Chronic hemolytic anemia Portal vein thrombosis Compensated hemolytic anemia Pyropoikilocytosis Spherocytosis Recurrent thromboembolism Increased mean corpuscular hemoglobin concentration Increased intracellular sodium Exercise-induced hemolysis Increased red cell hemolysis by shear stress Cleft palate Intrauterine growth retardation Talipes equinovarus Polyhydramnios Elliptocytosis Generalized edema Hip dislocation Abnormality of the liver EMG: myopathic abnormalities Mitochondrial myopathy Abnormality of muscle fibers Exercise-induced muscle cramps Inflammatory myopathy Anemia Jaundice Elevated hepatic transaminase Pallor Hemolytic anemia Esophageal varix Ascites Dehydration Hepatitis Hyperbilirubinemia Cholelithiasis Pericardial effusion Thromboembolism Reticulocytosis Increased serum ferritin Pes planus Talipes Cryptorchidism Crackles Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Axial muscle weakness Reduced vital capacity Peroneal muscle atrophy Muscle fiber necrosis Nocturnal hypoventilation Orthopnea Hamstring contractures Thoracolumbar scoliosis Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Cardiac conduction abnormality Intellectual disability Hypertelorism Strabismus Abnormal facial shape Right ventricular hypertrophy Hypoventilation Congenital hip dislocation Apnea Ophthalmoparesis Centrally nucleated skeletal muscle fibers Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Hypertension Hyporeflexia Cough Hip contracture Abnormality of the cerebral white matter Waddling gait Elbow flexion contracture Poor head control Gowers sign Congenital muscular dystrophy Increased variability in muscle fiber diameter High pitched voice Generalized amyotrophy Neoplasm


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