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Neutral lipid storage disease with myopathy

ORPHA:98908 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(4)

  • Fatty replacement of skeletal muscleHP:0012548
  • Increased intramyocellular lipid dropletsHP:0012240
  • Progressive proximal muscle weaknessHP:0009073
  • Shoulder girdle muscle weaknessHP:0003547

Frequent (79-30%)(17)

  • Abnormal circulating creatine kinase activityHP:0040081
  • CardiomyopathyHP:0001638
  • Difficulty runningHP:0009046
  • Easy fatigabilityHP:0003388
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • FasciculationsHP:0002380
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Gowers signHP:0003391
  • Hepatic steatosisHP:0001397
  • HypertriglyceridemiaHP:0002155
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Motor delayHP:0001270
  • MyalgiaHP:0003326
  • MyopathyHP:0003198
  • Pelvic girdle muscle weaknessHP:0003749
  • Very long chain fatty acid accumulationHP:0008167

Occasional (29-5%)(14)

  • AreflexiaHP:0001284
  • Chronic pancreatitisHP:0006280
  • Congestive heart failureHP:0001635
  • Diabetes mellitusHP:0000819
  • Foot dorsiflexor weaknessHP:0009027
  • Generalized limb muscle atrophyHP:0009055
  • Hand muscle weaknessHP:0030237
  • HepatomegalyHP:0002240
  • Mild intellectual disabilityHP:0001256
  • Neck muscle weaknessHP:0000467
  • Progressive distal muscle weaknessHP:0009063
  • Rimmed vacuolesHP:0003805
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322

Very rare (<4-1%)(2)

  • CholecystitisHP:0001082
  • Pineal cystHP:0012683

Excluded (0%)(2)

  • IchthyosisHP:0008064
  • ObesityHP:0001513