Fever, and Muscle cramps

Diseases related with Fever and Muscle cramps

In the following list you will find some of the most common rare diseases related to Fever and Muscle cramps 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

Medium match BRODY MYOPATHY

Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).

Related symptoms:

  • Pain
  • Spasticity
  • Flexion contracture
  • Fever
  • Myopathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BRODY MYOPATHY

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM Is also known as cpt2, adult-onset form|cpt2 deficiency, late-onset|carnitine palmitoyl transferase deficiency type 2, myopathic form|cptii, myopathic form|carnitine palmitoyl transferase ii deficiency, adult-onset form|carnitine palmitoyl transferase deficiency type 2, a

Related symptoms:

  • Muscle weakness
  • Pain
  • Spasticity
  • Visual impairment
  • Fever


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Other less relevant matches:

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

Medium match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1 Is also known as hyperprostaglandin e syndrome 1|hypokalemic alkalosis with hypercalciuria 1, antenatal

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

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

Top 5 symptoms//phenotypes associated to Fever and Muscle cramps

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Rhabdomyolysis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Muscle cramps. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myalgia Generalized muscle weakness Short stature Myopathy Malignant hyperthermia Pain Arrhythmia Failure to thrive Paresthesia Proximal muscle weakness Vomiting Intellectual disability Global developmental delay Elevated serum creatine phosphokinase Chondrocalcinosis Hypercalciuria Scoliosis Polyhydramnios Ventricular arrhythmia Constipation Prominent forehead Tachycardia Diarrhea Hypokalemia Polyuria Alkalosis Hypomagnesemia Motor delay Renal potassium wasting Renal salt wasting Hypochloremia Hypokalemic alkalosis Hypokalemic metabolic alkalosis Increased circulating renin level Metabolic alkalosis Tetany Abnormal facial shape Dehydration Flexion contracture Myotonia Hyperkalemia Muscular dystrophy Myoglobinuria Renal insufficiency

Rare Symptoms - Less than 30% cases

Growth delay Hyposthenuria Nephrocalcinosis Postural instability Nausea Vertigo Nausea and vomiting Increased urinary potassium Delayed puberty Rigidity Fetal polyuria Hyperactive renin-angiotensin system Hyperchloriduria Hypotension Hyperprostaglandinuria Cardiac arrest Increased serum prostaglandin E2 Abnormality of the coagulation cascade Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Strabismus Ataxia Muscle stiffness Hypocalciuria Myopathic facies Hyperaldosteronism Premature birth Triangular face Small for gestational age Hyperphosphatemia Osteopenia Cleft palate Acidosis Skeletal muscle atrophy Respiratory insufficiency Cardiomyopathy Ophthalmoparesis Kyphoscoliosis Polydipsia Arthrogryposis multiplex congenita Facial palsy Spasticity Decreased fetal movement Ventricular fibrillation Deep philtrum Low hanging columella Gastroesophageal reflux Weight loss Sensorineural hearing impairment Hearing impairment Impaired platelet aggregation Thoracic kyphosis Stage 5 chronic kidney disease Scaphocephaly Pseudohypoaldosteronism Acute kidney injury Sinus tachycardia Long upper lip Abnormally large globe Congenital ptosis Breech presentation Diaphragmatic eventration Severe lactic acidosis Abnormality of the sternum Respiratory arrest Hyperthyroidism Protruding ear Joint hypermobility Hypercalcemia Dilatation Salt craving Hypertelorism Cryptorchidism Ptosis Low-set ears High palate Epicanthus Downslanted palpebral fissures Hypertonia Kyphosis Malar flattening Midface retrusion Nocturia Lumbar hyperlordosis Pectus excavatum Pes cavus Hyperhidrosis Hyperlordosis Stroke Webbed neck Abnormal bleeding Metabolic acidosis Pectus carinatum Limb muscle weakness Renal magnesium wasting Lymphedema Diabetes insipidus Nephropathy Hyperparathyroidism Parathyroid adenoma Parathyroid hyperplasia Nephrogenic diabetes insipidus Hypertension Abdominal pain Arthralgia Lactic acidosis Erythema Paralysis Confusion Palpitations Hypovolemia Inflammatory abnormality of the skin Tachypnea Ventricular tachycardia Hyperkinesis Blurred vision Prolonged QT interval Episodic fever Hyperventilation Enuresis Periodic paralysis Shock Pollakisuria Anxiety Abnormal cerebellum morphology Macrotia Nemaline bodies Talipes equinovarus Areflexia Pes planus Neonatal hypotonia Hypertrophic cardiomyopathy Hip dislocation Talipes Congenital hip dislocation Limb-girdle muscular dystrophy Spinal rigidity Centrally nucleated skeletal muscle fibers Type 1 muscle fiber predominance Feeding difficulties Skeletal myopathy Generalized limb muscle atrophy Stooped posture Minicore myopathy Micrognathia Intellectual disability, mild Hypogonadism Hypothyroidism Dyspnea Hypoglycemia Elevated hepatic transaminase Intrauterine growth retardation Cognitive impairment Abnormality of the liver Respiratory failure EMG: myopathic abnormalities Delayed gross motor development Mitochondrial myopathy Increased muscle fatiguability Abnormality of muscle fibers Exercise-induced muscle cramps Inflammatory myopathy Difficulty walking Paraparesis Spastic paraparesis Visual impairment Lower limb muscle weakness Recurrent pancreatitis Hypertriglyceridemia Insulin resistance Hypocalcemia Pancreatitis Abnormality of the musculature Severe vision loss Ketosis Ketonuria Exercise-induced myalgia Hyperlipoproteinemia Recurrent myoglobinuria Cleft lip Dilated cardiomyopathy Frontal bossing Tinnitus Encephalopathy EEG abnormality Apnea Progressive cerebellar ataxia Migraine Focal-onset seizure Epileptic encephalopathy Intention tremor Diplopia Horizontal nystagmus Sleep apnea CNS hypomyelination Headache Incoordination Hemiplegia Focal impaired awareness seizure Loss of consciousness Vestibular dysfunction Gaze-evoked nystagmus Cerebellar vermis atrophy Episodic ataxia Saccadic smooth pursuit Downbeat nystagmus Macrocephaly Depressivity Dystonia Hepatic steatosis Reduced antithrombin III activity Bifid uvula Chest pain Hepatitis Hypogonadotrophic hypogonadism Exercise intolerance Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Increased intramyocellular lipid droplets Cerebellar atrophy Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Nystagmus Dysarthria Optic atrophy Tremor Ventriculomegaly Hypoplasia of the corpus callosum Mixed respiratory and metabolic acidosis


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