When to Suspect HSPB8 Myopathy?

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.