What is facioscapulohumeral muscular dystrophy?

Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy. It is a genetic condition which consists of two different types, with 95% of FSHD cases caused by  FSHD type 1. This occurs due to a change in the D4Z4 region on chromosome 4. It causes progressive muscle weakness, usually beginning in the face, shoulders, and upper arms, but eventually affecting other muscle groups such as the back and legs. Weakness and chronic pain are major issues for patients. Pain not only limits movement, but also interferes with sleep, daily activities and overall quality of life. 

Because pain in FSHD is complex, involving both physical and psychological factors, treatment requires a broad and flexible approach. Patients may need a combination of physical therapy, medications, lifestyle adjustments, and sometimes psychological support to keep pain under control.¹

Understanding pain in FSHD

Pain in FSHD comes from different mechanisms, including muscle weakness from different posture and movement patterns, putting extra strain on joints and soft tissues. These can lead to aching shoulders, lower back pain or hip pain. As muscles degenerate and are replaced by fat, they become more prone to soreness and fatigue, which further increases discomfort. Chronic pain can then create a cycle of poor sleep, reduced activity, and worsening fatigue, which further intensifies the perception of pain. Understanding these underlying causes is the first step toward effective management.

Non-pharmacologic strategies

One of the most important areas of pain management in FSHD is non-drug therapy. Physical therapy plays a key role, focusing on gentle strengthening of muscles that are less affected, stretching to maintain range of motion and postural correction to reduce mechanical strain. Therapists often recommend tailored exercise programs that emphasise pacing, doing enough activity to maintain function but avoiding overexertion in order not to cause more harm. 

Hydrotherapy (exercising in water) is another useful method because buoyancy reduces pressure on joints and muscles. This allows patients to move more freely with less discomfort. Furthermore, massage and heat therapy can provide short-term relief for muscle soreness, while braces or supportive devices may help offload weakened muscle groups. For example, scapular bracing or surgical stabilisation of the shoulder blades has been used to improve mechanics and reduce pain in some patients.²

Lifestyle changes are equally important. Learning to pace daily activities, improving sleep habits, and adopting ergonomic strategies for work or home can all make a significant difference. As pain is not only physical but also emotional and psychological, support can help patients cope better and reduce the distress associated with chronic pain.³

Pharmacologic strategies

When non-drug measures are not enough, medications will be introduced. For many patients, simple pain relievers or non-steroidal anti-inflammatory drugs (NSAIDs) can be helpful, particularly during acute flares or when joint inflammation is present. However, long-term use of NSAIDs must be monitored because of risks to the stomach, kidneys, and heart.

For persistent or neuropathic pain, doctors may consider other medications. Low doses of antidepressants can reduce chronic pain sensitivity. Similarly, anticonvulsant drugs such as gabapentin may be used to dampen nerve-related pain. These options can be particularly helpful if patients experience burning, tingling, or widespread pain that does not respond to standard painkillers.

Opioids can sometimes be prescribed for severe pain, but they are generally avoided due to concerns about dependency, side effects, and limited long-term benefit. When used, they are reserved for select patients under the care of pain specialists.⁴

Multidisciplinary care

Because FSHD pain is so varied, the best results often come from a multidisciplinary approach. This may involve a neurologist to monitor disease progression, a physical therapist to guide exercises, a pain specialist to oversee medications and a psychologist to help with coping strategies. Regular reassessment is critical, since pain patterns can change as muscle weakness progresses.

Sleep and fatigue management are also essential, since poor rest can heighten pain sensitivity. Simple interventions such as good sleep hygiene or the use of fatigue-reducing strategies can indirectly help control pain levels.⁵

Challenges and future directions

Despite advances, some pain in FSHD remains unrecognised. Many patients report that their doctors do not ask regularly about pain, focusing instead on weakness. There is also limited evidence from large clinical trials on the best treatments, making management highly individualised.

Future research will need to clarify which exercise programs are safest and most effective, whether new classes of drugs can help with chronic muscle pain, and how psychological interventions can be better integrated into standard care. Advances in imaging, such as MRI of paraspinal muscles, may also help identify the structural causes of pain more precisely. ³

FAQs

Is pain in FSHD only caused by muscle weakness?

No, while weakness and muscle changes are major factors, pain can also result from joint stress, tendon injuries, poor posture or central nervous system sensitivity.

Can exercise make pain worse?

Suppose done incorrectly or excessively, yes. But with professional guidance, gentle and consistent exercise usually helps reduce pain and maintain function.

What medications work best for FSHD pain?

There is no single best drug. NSAIDs may help with acute pain, while antidepressants or gabapentin are considered for chronic or neuropathic-like pain. Opioids are rarely used.

Does the pain ever go away completely?

Chronic pain often cannot be eliminated entirely, but with the right combination of treatments, it can usually be reduced to a level that allows better sleep, activity, and quality of life.

Summary

Pain is one of the most challenging and overlooked symptoms of facioscapulohumeral muscular dystrophy. It can arise from multiple mechanisms and has an impact on physical, emotional and social well-being. Effective management requires a comprehensive approach that combines physical therapy, lifestyle strategies, medications and psychological support. Although current evidence is limited, recognition of pain as a key issue in FSHD is growing, and ongoing research may provide clearer guidelines in the future. For now, individualised care and multidisciplinary support remain the most effective for this condition.