Disease Information for McArdle's syndrome

Clinical Manifestations
Signs & Symptoms
Exertional syncope/presyncope
Acute Motor Weakness
Bilateral Calf Pains
Cramping in Extremities
Leg Pain
Leg Pain with Exercise
Leg pain with exercise/persistent
Muscle contractures/signs
Muscle cramps/spasms
Muscle Pain
Muscle pains/exercise induced
Muscle weakness
Muscles swelling
Prolonged/swelling/shortened muscle/after exertion
Tender or painful muscles/Myalgias
Weak/Weak as a kitten (symptom)
Weakness climbing stairs
Infant Seizures
Mental Slowing Deteriation
Motor slowing
Spasms in Both Legs
Weakness/Diffuse motor loss
Difficulty climbing stairs
Difficulty lifting heavy items
Difficulty running
Enervated/extreme acute fatigue
Episodic symptoms/events
Exertion intolerance
Spells/Episodes of weakness
Weakness non-neuromuscular/systemic
Disease Progression
Course/Attacks Episodic Spells
Course/Chronic only
Onset/Manifestation/Any age
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Muscle disease/Muscular dystrophy
Event, Activity, Behavioral & Seasonal Factors
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Fasting hypoglycemia (Lab)
Transaminase elevation (Lab)
Very High CPK
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Lactic acid/Lactate (Lab)
Abnormal Lab Findings - Increased
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
pH, arterial blood (Lab)
URINE Myoglobin
Diagnostic Test Results
Other Tests & Procedures
TEST/Flat lactate response/Cuff tight repeated grip
BX/Muscle biopsy/Fiber atrophy
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Associated Disease & Complications
Alkalosis, respiratory
Convulsions (grand mal)
Hypoglycemia, infantile
Metabolic Myopathy
Neurodevelopmental disorders
Disease Synergy - Causes
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Striated muscle disorder (ex)
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Gene locus 11q13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Metabolic myopathy (ex)
Pathophysiology/Muscle phosphorylase defect
Pathophysiology/Myocyte breakdown/lysis
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Glycogen metabolic defects (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
5 Glycogenosis, 5s Glycogenosis, DEFIC MUSCLE PHOSPHORYLASE, Deficiencies Muscle Phosphorylase, Deficiency Muscle Phosphorylase, deficiency myophosphorylase, Disease McArdle, Disease McArdle's, GLYCOGEN STORAGE DIS V, GLYCOGEN STORAGE DISEASE TYPE V, Glycogen storage disease type V (disorder), Glycogen storage disease V, GLYCOGENOSIS 05, Glycogenosis 5, Glycogenosis 5s, Glycogenosis type 5, glycogenosis type V, GSD V, McArdle, MCARDLE DIS, MCARDLE DISEASE, MCARDLES DIS, McArdles disease, McArdle's disease, Muscle glycogen phosphoryl def, Muscle glycogen phosphorylase deficiency, MUSCLE PHOSPHORYLASE DEFIC, Muscle Phosphorylase Deficiencies, MUSCLE PHOSPHORYLASE DEFICIENCY, Muscle phosphorylase deficiency syndrome, myophosphorylase deficiency, MYOPHOSPHORYLASE DEFICIENCY GLYCOGENOSIS, Phosphorylase Deficiencies Muscle, Phosphorylase Deficiency Muscle, PYGM DEFICIENCY, Type V glycogen storage disease, Synonym/Myophosphorylase deficiency glycogenosis, Synonym/Type 5 glycogenosis

McArdle"s disease;Also known as: Cori"s syndrome; McArdle’s syndrome; Maladie de McArdle-Schmid-Pearson; Cori’s type V glycogenosis; McArdle-Schmid-Pearson syndrome; A condition caused by an inborn abnormal accumulation of glycogen in muscle tissue due to a phosphorylase B deficiency; Symptoms are muscular pain, fatigability, and muscle cramping following exercise; Rest makes symptoms disappear; Size and initial power tone of muscle normal at outset of exercise; Onset usually in childhood, although diagnosis may be made later; The affected children appear normal early in life, but late in childhood and adolescence they tire easily; During the later stages of adolescence and adulthood, they suffer from severe cramps and myoglobinuria after exercise; Unlike other types of glycogenosis the disease is not fatal and the missing enzyme does not impair the functioning of other body systems;Inheritance is autosomal recessive but a Dominant form also reported; case: 30 years of age male who experienced pain followed by weakness and stiffness after exercise as having been present "all his life", but doctors had dismissed his symptoms as hysterical; unlike ordinary cramps, those experienced by the patient were electrically silent, and that his venous lactate level failed to increase after ischaemic exercise; He realised that this was the same phenomenon that occurs when muscle is poisoned by iodoacetate, a substance that blocks the breakdown of glycogen into glucose and prevents the formation of lactic acid;

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McArdle syndrome;Glycogen storage disease type V; Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PGYM deficiency; McArdle syndrome is a disease characterized by an inability to break down glycogen; Glycogen an important source of energy that is stored in muscle tissue; McArdle syndrome results from a mutation in a gene; The gene makes an enzyme called glycogen phosphorylase; glycogen cannot be broken down in the muscles; This may lead to weakness, cramps, and muscle pain; The disease is inherited as an autosomal recessive genetic disorder;


External Links Related to McArdle's syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)