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Traits

Traits linked to PYGM

glycogen phosphorylase, muscle associated

The Human Phenotype Ontology links 30 traits to PYGM, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHvor ofte det ses
Reduced muscle glycogen phosphorylase activityAltid
Elevated blood creatine phosphokinaseMeget ofte (80–99 %)
Glycogen accumulation in muscle fiber lysosomesMeget ofte (80–99 %)
Highly elevated creatine kinaseMeget ofte (80–99 %)
Increased muscle glycogen contentMeget ofte (80–99 %)
Dark urineOfte (30–79 %)
Exercise-induced myoglobinuriaOfte (30–79 %)
High blood uric acid levelOfte (30–79 %)
MyoglobinuriaOfte (30–79 %)
Recurrent myoglobinuriaOfte (30–79 %)
Failure to elevate lactate upon ischemic exercise testIkke registreret

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Breakdown of skeletal muscleOfte (30–79 %)
Exercise-induced muscle crampsOfte (30–79 %)
Exercise-induced muscle stiffnessNogle gange (5–29 %)
Muscle degenerationNogle gange (5–29 %)
Muscle weaknessNogle gange (5–29 %)
Progressive proximal muscle weaknessNogle gange (5–29 %)
Exercise-induced rhabdomyolysisIkke registreret

Constitutional symptom

TraitHvor ofte det ses
Decreased ability to exerciseMeget ofte (80–99 %)
Exercise-induced muscle painNogle gange (5–29 %)
FatigueNogle gange (5–29 %)
Postexertional symptom exacerbationNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Failure to elevate ammonia on ischemic exerciseAltid
Elevated heart rateNogle gange (5–29 %)
Enlarged and thickened heart muscleNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Acute kidney injuryNogle gange (5–29 %)
Chronic kidney diseaseSjældent (1–4%)

Abnormality of head or neck

TraitHvor ofte det ses
Chewing difficultiesSjældent (1–4%)

Abnormality of the digestive system

TraitHvor ofte det ses
Poor swallowingSjældent (1–4%)

Abnormality of the respiratory system

TraitHvor ofte det ses
Exertional breathlessnessNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to PYGM and how often each is seen. Find out more at hpo.jax.org.

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