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

Trait	Kui sageli seda täheldatakse
Reduced muscle glycogen phosphorylase activity	Alati
Elevated blood creatine phosphokinase	Väga sageli (80–99%)
Glycogen accumulation in muscle fiber lysosomes	Väga sageli (80–99%)
Highly elevated creatine kinase	Väga sageli (80–99%)
Increased muscle glycogen content	Väga sageli (80–99%)
Dark urine	Sageli (30–79%)
Exercise-induced myoglobinuria	Sageli (30–79%)
High blood uric acid level	Sageli (30–79%)
Myoglobinuria	Sageli (30–79%)
Recurrent myoglobinuria	Sageli (30–79%)
Failure to elevate lactate upon ischemic exercise test	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Breakdown of skeletal muscle	Sageli (30–79%)
Exercise-induced muscle cramps	Sageli (30–79%)
Exercise-induced muscle stiffness	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)
Muscle weakness	Mõnikord (5–29%)
Progressive proximal muscle weakness	Mõnikord (5–29%)
Exercise-induced rhabdomyolysis	Pole registreeritud

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Decreased ability to exercise	Väga sageli (80–99%)
Exercise-induced muscle pain	Mõnikord (5–29%)
Fatigue	Mõnikord (5–29%)
Postexertional symptom exacerbation	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Failure to elevate ammonia on ischemic exercise	Alati
Elevated heart rate	Mõnikord (5–29%)
Enlarged and thickened heart muscle	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Acute kidney injury	Mõnikord (5–29%)
Chronic kidney disease	Harva (1–4%)

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Chewing difficulties	Harva (1–4%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Harva (1–4%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Exertional breathlessness	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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