Autozomálně dominantní
Caused by a change in one copy of STIM1 or ORAI1, which together control store-operated calcium entry. Disease-causing changes are gain-of-function, letting too much calcium into cells.
Příznaky a projevy
Muscle weakness, often in the legs, along with cramps or muscle pain, beginning in childhood. Some people have features of Stormorken syndrome, such as small pupils (miosis), a low platelet count with bleeding tendency, a small or absent spleen, scaly skin and short stature. Some people develop joint contractures.
Co se diagnózou změní
Physiotherapy and neuromuscular follow-up, with checks of blood counts, spleen and eyes where Stormorken features may be present. Children of an affected person may inherit the change, so genetic counselling and family testing can be offered.
Známé také jako
myopathy, tubular aggregate, 1; myopathy, tubular aggregate, type 1; TAM1
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- myopathy, tubular aggregate, 1
- myopathy, tubular aggregate, 2
