Pure mitochondrial myopathy
ORPHA:254854DiseaseMitochondrial inheritanceAdolescent, Childhood
Фенотипы (HPO)33
Очень частый (80–99%)4
HP:0003546Exercise intolerance
HP:0003551Difficulty climbing stairs
HP:0003701Proximal muscle weakness
HP:0009046Difficulty running
Частый (30–79%)11
HP:0002359Frequent falls
HP:0002460Distal muscle weakness
HP:0002515Waddling gait
HP:0002600Hyporeflexia of lower limbs
HP:0003391Gowers sign
HP:0003547Shoulder girdle muscle weakness
HP:0003722Neck flexor weakness
HP:0003749Pelvic girdle muscle weakness
HP:0007126Proximal amyotrophy
HP:0009020Exercise-induced muscle fatigue
HP:0030199Fatigable weakness of neck muscles
Периодический (5–29%)11
HP:0000590Progressive external ophthalmoplegia
HP:0001260Dysarthria
HP:0001488Bilateral ptosis
HP:0002505Loss of ambulation
HP:0002938Lumbar hyperlordosis
HP:0003326Myalgia
HP:0003327Axial muscle weakness
HP:0003394Muscle spasm
HP:0003731Quadriceps muscle weakness
HP:0030192Fatigable weakness of bulbar muscles
HP:0030195Fatigable weakness of swallowing muscles
Очень редкий (1–4%)7
HP:0000651Diplopia
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0002650Scoliosis
HP:0003201Rhabdomyolysis
HP:0003652Recurrent myoglobinuria
HP:0003691Scapular winging
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)