Practical Information

Unfortunately, at the moment, no formal standard of care exists for HSPB8 Myopathy. However, a standard of care has been developed and published for VCP (Valosin-containing protein) disease, thanks to the efforts of the Cure VCP advocacy group. VCP disease shares many overlapping features with HSPB8 Myopathy, especially related to myopathic symptoms, and the supportive therapies section below is based on the guideline described. The full document can be accessed via this link.  

There is currently no approved treatment to slow down or stop HSPB8 myopathy, so care focuses on managing symptoms. Patients should visit a multidisciplinary clinic every six months, where they can see an interdisciplinary team including a neurologist, physical therapist, occupational therapist, speech-language pathologist, respiratory therapist, and social worker. This team will help manage symptoms like muscle weakness, breathing problems, and muscle cramps. Supportive measures, such as using mechanical aids and maintaining a healthy weight to avoid obesity, can also be helpful.   

Exercise 

Regular exercise programs of low to moderate intensity are recommended to help maintain muscle function, strength, flexibility, endurance, balance, and independence in daily activities. Staying active is important because inactivity can lead to further muscle weakness and loss of function. While maintaining current strength is important, targeted muscle strengthening exercises should be done with proper monitoring for some patients. Although exercise is recommended, there is still a lack of evidence on the best exercise plan specifically for HSPB8 myopathy. Assistive devices that can help include ankle foot orthotics, canes, walkers, wheelchairs, chair seat risers, mobile arm supports, and lift systems.  

Respiratory Therapy  

Respiratory therapy is crucial for monitoring and managing breathing function. Pulmonary function tests should be done at least once a year, measuring forced vital capacity (FVC) in both sitting and lying down positions. Timely use of chest physiotherapy, non-invasive ventilation, and devices that help with breathing in and out can be very beneficial.  

Speech-Language Pathology  

Assessing bulbar function, which involves the muscles used for speech and swallowing, is crucial because it is closely connected to breathing and nutritional health. Speech-language pathologists evaluate how well a person can swallow, their speaking rate, and overall clarity of speech. A swallow study, using techniques like videofluoroscopy or flexible endoscopy, can detect swallowing difficulties and guide targeted treatments.  

Specific diets and supplements haven't been properly studied in individuals with HSBP8 myopathy. However, a lipid-enriched diet has been shown to improve survival and muscle health in mice with a similar condition, though more research is needed to confirm these effects in humans.  

It's reasonable to recommend an anti-inflammatory diet. This diet should be rich in fruits and vegetables, whole grains, lean proteins, and fatty fish, while avoiding highly processed foods and products with preservatives, pesticides, and artificial ingredients. Additionally, there is some evidence that a Mediterranean diet, which is protective against dementia and cardiovascular disease, might also be beneficial for the patients.  

Family monitoring  

People with HSPB8 mutations who do not yet have muscle weakness, as well as family members at risk, should be regularly checked for early signs of muscle problems. This involves standard strength and functional tests conducted by a multidisciplinary team. If muscle weakness is detected, they should have regular follow-ups to monitor for any progression and consider possible interventions. These check-ups should occur every 6 to 12 months, or more frequently if the muscle weakness worsens more quickly.