Myopathy and diabetes mellitus
ORPHA:2596DiseaseMitochondrial inheritanceAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)3
HP:0003756Skeletal myopathy
HP:0007126Proximal amyotrophy
HP:0100651Type I diabetes mellitus
Частый (30–79%)9
HP:0002395Lower limb hyperreflexia
HP:0002540Inability to walk
HP:0003487Babinski sign
HP:0003546Exercise intolerance
HP:0003547Shoulder girdle muscle weakness
HP:0003551Difficulty climbing stairs
HP:0009046Difficulty running
HP:0009073Progressive proximal muscle weakness
HP:0012391Hyporeflexia of upper limbs
Периодический (5–29%)13
HP:0001260Dysarthria
HP:0002073Progressive cerebellar ataxia
HP:0002098Respiratory distress
HP:0002342Intellectual disability, moderate
HP:0002359Frequent falls
HP:0003326Myalgia
HP:0003477Peripheral axonal neuropathy
HP:0003749Pelvic girdle muscle weakness
HP:0008944Distal lower limb amyotrophy
HP:0012036Sternocleidomastoid amyotrophy
HP:0012507Weakness of orbicularis oculi muscle
HP:0030051Tip-toe gait
HP:0030319Weakness of facial musculature
Очень редкий (1–4%)7
HP:0000407Sensorineural hearing impairment
HP:0000726Dementia
HP:0001319Neonatal hypotonia
HP:0001771Achilles tendon contracture
HP:0002495Impaired vibratory sensation
HP:0031258Delirium
HP:0100753Schizophrenia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)