Fever, and Elevated serum creatine phosphokinase

Diseases related with Fever and Elevated serum creatine phosphokinase

In the following list you will find some of the most common rare diseases related to Fever and Elevated serum creatine phosphokinase 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

A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Other less relevant matches:

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic

Related symptoms:

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia


SOURCES: OMIM MESH MENDELIAN

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

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

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

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Top 5 symptoms//phenotypes associated to Fever and Elevated serum creatine phosphokinase

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Malignant hyperthermia Uncommon - Between 30% and 50% cases
Myalgia Uncommon - Between 30% and 50% cases
Rhabdomyolysis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Elevated serum creatine phosphokinase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Myoglobinuria Muscle stiffness Myopathy Cardiomyopathy Elevated hepatic transaminase Hypoglycemia Encephalopathy Arrhythmia Generalized hypotonia Dilated cardiomyopathy Hyperkalemia Renal insufficiency Muscle cramps Pain Hepatic steatosis

Rare Symptoms - Less than 30% cases

Failure to thrive Vomiting Hepatomegaly Recurrent myoglobinuria Acute kidney injury Metabolic acidosis Hyperhidrosis Lethargy Coma Cardiomegaly Ventricular hypertrophy Hyperammonemia Hypoketotic hypoglycemia Abnormality of the coagulation cascade Hyperphosphatemia Motor delay Ketonuria Spasticity Tachycardia Respiratory arrest Acute rhabdomyolysis Bradycardia Areflexia Clumsiness Delayed gross motor development Myoclonus Feeding difficulties Cerebellar atrophy Hypothyroidism Hypogonadism Prominent forehead Intellectual disability, mild Short stature Cleft palate Reye syndrome-like episodes Dyspnea Acute encephalopathy Abnormal facial shape Micrognathia Impaired gluconeogenesis Cleft lip Abnormality of the liver Growth delay Exercise-induced myalgia Recurrent pancreatitis Lower limb muscle weakness Self-injurious behavior Athetosis Atrophy/Degeneration affecting the brainstem Visual impairment Respiratory failure Proximal muscle weakness Irregular respiration Hypertriglyceridemia Hyperlipoproteinemia Insulin resistance Hypocalcemia Pancreatitis Abnormality of the musculature Severe vision loss Ketosis Reduced muscle carnitine level Bifid uvula Delayed puberty Fasting hypoglycemia Chest pain Reduced antithrombin III activity Feeding difficulties in infancy Small face Hypertrophic cardiomyopathy Abdominal pain Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Recurrent respiratory infections Hyperinsulinemic hypoglycemia Congestive heart failure Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Muscular hypotonia Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Hyperkinesis Irritability Generalized tonic-clonic seizures with focal onset Excessive daytime somnolence Hepatitis Abnormal protein glycosylation Endocardial fibroelastosis Skeletal myopathy Cardiac arrest Decreased plasma carnitine Recurrent hypoglycemia Hypogonadotrophic hypogonadism Respiratory tract infection Exercise intolerance Neck muscle weakness Pierre-Robin sequence Decreased muscle mass Easy fatigability Left ventricular hypertrophy Confusion Focal impaired awareness seizure Abnormality of skeletal muscles Poor head control Stridor Atonic seizures Motor deterioration Apnea Paralysis Cyanosis Myotonia Skeletal muscle hypertrophy Cutaneous photosensitivity Periodic paralysis Laryngospasm Apneic episodes in infancy Hyporeflexia Inability to walk Generalized muscle weakness Recurrent upper respiratory tract infections Absence seizures Febrile seizures Respiratory distress Scoliosis Muscular dystrophy EMG: myopathic abnormalities Mitochondrial myopathy Increased muscle fatiguability Abnormality of muscle fibers Exercise-induced muscle cramps Inflammatory myopathy Ataxia Progressive cerebellar ataxia Peripheral neuropathy Dysarthria Tremor Syndactyly Gait ataxia Difficulty walking Sensory neuropathy Dark urine Acidosis Infantile muscular hypotonia Cerebral atrophy Global developmental delay Microcephaly Cognitive impairment Hypertension Ventriculomegaly Hypoplasia of the corpus callosum Dystonia Absent speech Cardiomyocyte mitochondrial proliferation Abnormality of movement Dyskinesia Tetraplegia Chorea Focal-onset seizure Choreoathetosis Involuntary movements Intellectual disability Abnormality of masseter muscle Nausea and vomiting Tachypnea Hepatic failure Aciduria Loss of consciousness Dicarboxylic aciduria Macrovesicular hepatic steatosis Hypoglycemic encephalopathy Ventricular tachycardia Ventricular extrasystoles High-output congestive heart failure Acute hepatic failure Supraventricular tachycardia Exercise-induced rhabdomyolysis Hypercapnia Elevated creatine kinase after exercise Necrotizing myopathy Intermittent painful muscle spasms Decreased carnitine level in liver


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