A Dutch team has studied 24 patients with nemalin myopathy type 6, linked to mutations in KBTBD13 and the most prevalent in the Netherlands.
- Since childhood, patients have mainly suffered from muscle weakness, slowness of movement, muscle stiffness, difficulty running, fatigue and myalgia.
- Falls were reported by 71% of patients; over a prospective three-month period, eight fell at least once, five of them twice or more.
- The Mini-BEST balance test and the MFM were moderately impaired, with scores averaging 24/28 for the former and 91% for the latter.
- All had a reduced rate of muscle relaxation.
- Their health-related quality of life was significantly impaired.
