neutral lipid storage myopathy
ORPHA: 98908
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 neutral lipid storage myopathy, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceCholecystitisPineal cystShoulder girdle muscle weaknessProgressive proximal muscle weaknessIncreased intramyocellular lipid dropletsFatty replacement of skeletal muscleMotor delayGeneralized hypotoniaHepatic steatosisCardiomyopathyHypertriglyceridemiaFasciculationsElevated circulating hepatic transaminase concentrationMyopathyMyalgiaEasy fatigabilityGowers signPelvic girdle muscle weaknessVery long chain fatty acid accumulationDifficulty runningIncreased circulating lactate dehydrogenase concentrationAbnormal circulating creatine kinase concentrationSensorineural hearing impairmentNeck muscle weaknessDiabetes mellitusMild intellectual disabilityAreflexiaCongestive heart failureHepatomegalyRimmed vacuolesShort statureChronic pancreatitisFoot dorsiflexor weaknessGeneralized limb muscle atrophyProgressive distal muscle weaknessHand muscle weakness
Classification & Codes
Orphanet Code
ORPHA:98908neutral lipid storage myopathy
| Orphanet | ORPHA:98908 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO