myoglobinuria, acute recurrent, autosomal recessive
MeSH: C564832ORPHA: 99845
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with myoglobinuria, acute recurrent, autosomal recessive, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceRecurrent myoglobinuriaMuscle weaknessFeverHighly elevated creatine kinaseDark urineRenal insufficiencyReduced tendon reflexesElevated circulating hepatic transaminase concentrationType 2 muscle fiber atrophyViral infection-induced rhabdomyolysisExercise-induced myalgiaExercise-induced myoglobinuriaAbnormality of glycolipid metabolismElevated circulating aldolase concentrationIncreased circulating lactate dehydrogenase concentrationMyositisNeck muscle weaknessAcute kidney injuryHyperkalemiaAbnormal speech patternHypocalcemiaHyperphosphatemiaMuscle spasmImpaired masticationLower limb muscle weaknessProximal upper limb muscle weaknessArrhythmiaFatigable weakness of swallowing musclesAbnormality of jaw musclesOliguriaDisseminated intravascular coagulation
Classification & Codes
MeSH Code
C564832Orphanet Code
ORPHA:99845myoglobinuria, acute recurrent, autosomal recessive
| MeSH | C564832 |
| Orphanet | ORPHA:99845 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO