When to Suspect MFM13?
Clinical characteristics:
- Difficulty walking in early adulthood.
- Muscle weakness affecting distal lower extremities.
- Bilateral foot drop.
- Foot and ankle pain.
- Difficulty raising arms above the head, rising from a chair, or climbing stairs.
- Balance issues and frequent falls.
- Breathing problems (usually late adulthood).
Neurological examination findings:
- Atrophy of tarsal muscles and tibialis anterior (usually bilaterally)
- Distal weakness affecting ankle dorsiflexion, eversion, toe extension and flexion.
- The weakness might progress over time to involve proximal muscles.
- Muscle atrophy in the scapular region with scapular winging (A).
- Waddling gait, lumbar lordosis, or scoliosis.
- Decreased or absent ankle reflex
- Usually intact sensation.
- Usually, no facial or bulbar weakness.
