Müofibrillaarne müopaatia
Lihashaiguste rühm, mille puhul lihaskiudude kontraktiilne struktuur laguneb. Põhjustavad geenid nagu DES, CRYAB, MYOT, LDB3, FLNC ja BAG3.
Mida diagnoos muudab
Kuna süda on sageli kaasatud, soovitatakse ka sümptomite puudumisel regulaarseid südameuuringuid (nagu EKG ja ehhokardiograafia).
Tuntud ka nimetustena
Alpha Beta crystallinopathy (type); desmin related myopathy (former name); desmin storage myopathy (former name); Desminopathy (type); filaminopathy (type); myofibrillar myopathies; myofibrillar myopathy (disease); myotilinopathy (type); Protein surplus myopathy (former name); Zaspopathy (type)
Hõlmab 16 seotud alatüüpi ↓Peida alatüübid ↑
- central core myopathy
- fatal infantile hypertonic myofibrillar myopathy
- kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
- myofibrillar myopathy 1
- myofibrillar myopathy 10
- myofibrillar myopathy 11
- myofibrillar myopathy 2
- myofibrillar myopathy 3
- myofibrillar myopathy 4
- myofibrillar myopathy 5
- myofibrillar myopathy 6
- myofibrillar myopathy 7
- myofibrillar myopathy 8
- myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
- myopathy, myofibrillar, 13, with rimmed vacuoles
- myopathy, myofibrillar, 9, with early respiratory failure
