Table 1.
Comparison of clinical features seen in the two individuals with Human Phenotype Ontology (HPO) terms typically associated with McArdle disease
| HPO# | Clinical feature | Individual 1 | Individual 2 |
|---|---|---|---|
| HP:0003201 | Rhabdomyolysis | Y | Y |
| HP:0002875 | Exertional dyspnea | NR | NR |
| HP:0001919 | Acute kidney injury | NR | Y |
| HP:0003546 | Exercise intolerance | Y | Y |
| HP:0012378 | Fatigue | Y | Y |
| HP:0008305 | Exercise-induced myoglobinuria | Y | Y |
| HP:0002015 | Dysphagia | NR | NR |
| HP:0003738 | Exercise-induced myalgia | Y | Y |
| HP:0009045 | Exercise-induced rhabdomyolysis | Y | Y |
| HP:0030234 | Highly elevated creatine kinase | Y | Y |
| HP:0008967 | Exercise-induced muscle stiffness | Y | Y |
| HP:0005216 | Impaired mastication | NR | NR |
| HP:0003652 | Recurrent myoglobinuria | Y | Y |
| HP:0040319 | Dark urine | Y | Y |
| HP:0001649 | Tachycardia | NR | NR |
| HP:0009073 | Progressive proximal muscle weakness | NR | Y |
| HP:0003710 | Exercise-induced muscle cramps | Y | NR |
| HP:0012622 | Chronic kidney disease | NR | NR |
| HP:0030973 | Postexertional malaise | Y | Y |
| HP:0003202 | Skeletal muscle atrophy | NR | NR |
| HP:0009051 | Increased muscle glycogen content | NR | unk |
| HP:0001639 | Hypertrophic cardiomyopathy | NR | NR |
| Additional clinical features | |||
| HP:0000821 | Hypothyroidisma | Y | NR |
| HP:0001997 | Gouta | NR | Y |
| HP:0003077 | Hyperlipidemia | NR | Y |
| HP:0001677 | Coronary artery disease | NR | Y |
| HP:0005110 | Atrial fibrillation | NR | Y |
| HP:0005978 | Type 2 diabetes mellitus | NR | Y |
(Y) Yes, (NR) not reported, (unk) unknown.
aRecent association with McArdle disease reported in Pizzamiglio et al. (2021).