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3/2025
vol. 17
Case report
Symptomatic treatment in facioscapulohumeral dystrophy (FSHD): a case study
Magdalena Bitner-Bieleszuk
1
- Clinical Department of Anaesthesiology and Intensive Therapy, Faculty of Medicine, Wroclaw Medical University, Poland
Medycyna Paliatywna 2025; 17(3): 179–183
Online publish date: 2025/09/25
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Introduction
Facioscapulohumeral dystrophy (FSHD) represents the third most prevalent form of muscular dystrophy observed in the adult population, exhibiting an overall incidence of over 1 in 10,000 individuals [1]. It is a genetic disorder characterized by an autosomal dominant mode of inheritance. Symptoms typically start to manifest during the second decade of life; however, cases of early onset are associated with a more severe clinical presentation. This early manifestation is correlated with a more rapid progression of disability and an increased likelihood of complications [2]. The current paper aimed to present symptoms, diagnosis, and treatment options for FSHD based on latest publications, and a case study of a patient diagnosed with the disease admitted to the Pain Management and Palliative Care Center, University Hospital, Wroclaw.
Clinical features
Clinical manifestation of FSHD is characteristic; the disease starts with weakness in the muscles of the face and shoulder girdle, lips and eyelids movements gradually weaken, and there is limited inversion movement of the arms. Muscles stabilizing the scapula became atrophic, leading to their protrusion and formation of so-called “winged scapula” [2]. Other typical characteristics of FSHD include asymmetry of symptoms and selectivity of muscular involvement. Over the course of disease, there is usually progressive muscle weakness in the upper extremities; lower extremity involvement is less common, mostly muscles of the lower extremities (80%) than those of the iliac rim (20%) are affected [3]. Axial muscle weakness leads to lumbar hyperlordosis, but in the vast majority of cases, the glenohumeral and psoas muscles are spared. Respiratory muscle weakness is relatively uncommon, and typically arises as a consequence of thoracic deformities. Weakness usually progresses slowly, allowing patients to adapt and compensate for functional deficiencies. However, disability requiring the use of a wheelchair affects between 10 and 20% of patients, while in one-third of cases, lifelong symptoms involve only the muscles of the face and arms [1, 4, 5]. The overall life expectancy is not significantly reduced, except for individuals diagnosed with early onset, more severe forms of the condition, or without appropriate medical care.
Apart from muscle symptoms, extra muscular involvement is present in FSHD. According to different studies, the incidence of sensorineural hearing loss occurs in 25 to 65% of cases [4]. Some patients may manifest mild heart conduction defects, such as right bundle branch block or cardiomyopathy. In early onset patients, advanced stages of FSHD dysphagia have been described, in some cases requiring gastrostomy [1]. Furthermore, retinal telangiectasias can occur in a small subset of FSHD patients, but typically asymptomatic in most cases. Symptomatic respiratory complications due to FSHD occur in roughly 1% of patients, particularly in those with advanced stages of the disease and those who exhibit significant kyphoscoliosis [4].
Diagnosis
FSHD diagnosis is based on typical clinical pattern and confirmation by genetic testing. Creatine kinase (CK) level is normal or slightly elevated, while CK exceeding more than 5 times the upper limit suggests another diagnosis [6]. Non-specific myopathic changes can be observed on electromyography (EMG), but not correlating with severity of the disease [7].
In FSHD, skeletal muscle biopsy shows unspecified dystrophic changes with varying degrees of severity. In a single patient, dramatically different histopathological findings can be obtained in different muscles.
Standard molecular testing for FSHD reveals a contraction of D4Z4 repeats in one copy of 4q35 [8]. Testing procedures performed by most laboratories are highly sensitive (95%) and specific (95%) [4].
Treatment
At the present time, there are no known effective disease-specific therapeutic strategies for FSHD. Pharmacological trials using steroids, beta2-agonists, methionine, or folic acid, have not yielded favorable results [1]. The latest guidelines unequivocally advise against using albuterol, corticoids, or diltiazem to increase muscle strength [9]. However, a variety of medication and non-pharmacologic treatment can provide functional and symptomatic improvement.
Pain
Pain is a frequent complaint among many patients with FSHD. The experienced pain is characterized as musculoskeletal, frequently affecting joints adjacent to diminished muscles [10]. Scientific research observed that up to 88.6% of patients with FSHD complain of pain [4, 11, 12]. The most common sites affected are the lumbosacral region (which is influenced by the hyperlordosis), lower limbs, shoulders, and neck [12, 13].
Pharmacotherapy
The use of non-steroidal anti-inflammatory drugs and, if the pain is chronic, antidepressants, is preferred in these patients [4, 10]; however, there are no recommendations nor specific research on pain management. In this disease, myorelaxants application for musculoskeletal pain reduction remains unclear. In very severe cases, opioid treatment may be required [10]; however, no drug preference has been established. In case of neuropathic component of pain, oral or topical application of gabapentinoids might be useful [14, 15].
There is no current evidence supporting the use of cannabinoids in FSHD, although some studies suggest it could be helpful in treating pain associated with Duchenne dystrophy [16] and neuropathic pain [17]. The European Pain Federation (EFIC) in a position paper on the appropriate use of cannabis-based medicines and medical cannabis for chronic pain management from 2018 [18] recommend therapy with cannabis-based medicines as part of a multidisciplinary treatment under certain conditions. This treatment should be considered as an adjunctive medication if standard guideline-recommended therapies do not provide sufficient efficacy or tolerability [18]. The authors of the position paper mark that the document should be updated in the future due to many ongoing studies on the topic. If the decision to prescribe cannabis is made, THC- and CBD-rich hemp extracts are preferable options over vaporization [19]. The dosage should be titrated individually according to proposed protocols, starting from CBD alone or with balanced combination with THC [19].
Peripheral nerve blocks/cryoanalgesia
In case of suprascapular nerve entrapment, suprascapular block with local anesthetic/steroids or cryoanalgesia can be offered [20–22]. When pain is localized in thoracic spine, the intercostal nerve blockade and intercostal cryoanalgesia for chronic chest pain can be a part of multimodal pain management [23]. However, the efficacy of these procedures has not been assessed in the literature on FSHD. From the author’s perspective, pain reduction after the blockades is time-limited and requires further research.
Surgical scapular fixation
Some studies suggest that the implementation of scapular fixation may be beneficial in enhancing shoulder abduction and anterior flexion. Then again, the decision about this intervention should be considered individually [12, 24].
Rehabilitation
Rehabilitation and assistive devices application are helpful tools in alleviating pain and improving patients’ mobility. Custom molded ankle-foot orthosis (AFO) is useful in the management of foot drop [3, 9]. The use of braces aiming at improving scapular winging and enhancing shoulder range of motion is generally ineffective. Although figure-eight braces may diminish the visible appearance of scapular winging, they do not sufficiently stabilize the scapula to facilitate an improvement in range of motion. Additionally, these braces can be uncomfortable when worn for extended durations, and if applied too tightly, they pose a risk of compressing the brachial plexus [25]. However, employing such braces for brief intervals may be beneficial in alleviating discomfort for patients experiencing persistent shoulder pain resulting from shoulder joint laxity.
A few studies have demonstrated a short-term positive impact of both strength training and aerobic exercise in patients with FSHD [26, 27]. These findings were corroborated by a prospective trial conducted over the course of one year [28]. However, it is essential to exercise with caution. Depending on the severity of the disease in individual patients, specific types of exercises may increase the risk of falls, particularly in those with weakness in the ankles or knees, or may lead to overuse and stretch injuries in patients exhibiting weakness in the shoulders and periscapular region.
Case study
A 64-year-old patient was admitted to the Pain Management and Palliative Care Center in November 2022 due to chronic pain associated with facioscapulohumeral dystrophy diagnosis. He reported chronic dull pain in his right shoulder, muscle weakness, fasciculation, and tingling sensation in his right arm. These symptoms appeared along with FSHD in the patient’s second decade of life, and deteriorated significantly over the course of years. An orthopedic surgeon disqualified him from any surgical intervention of the shoulder, and recommended continuation of rehabilitation, which was an important routine implemented by the patient. At the visit, NRS score was 6/10, DN-4: 4, and NRS max. score of 8/10 were observed. He also suffered from low mood and anhedonia. During the last 12 months, the patient experienced 10 kg weight loss, associated with loss of appetite and progression of the dystrophy. Two main components of the pain were recognized: suprascapular nerve neuropathy and musculoskeletal pain, both exacerbated by psycho-social factors. Previously, the patient was treated by different specialists (i.e., GP, neurologist, orthopedic surgeon, and pain medicine specialist) and various medications were prescribed. Since 2017, he was using slow-release tramadol 50 mg 2x/d, which was gradually increased to 200 mg 2x/d, with occasional addition of immediate release 50 mg capsule of tramadol up to twice daily.
The patient declared discontinuation of taking tramadol a month prior to his first visit in the Pain Management Clinic, due to insufficient efficacy and concerns of the impact of high dosage on his health.
Other substances, such as gabapentinoids, antidepressants, and NSAIDS caused unacceptable gastric side-effects in the past, leading to discontinuation of the therapy; he also refused further opioid prescription. Overall, the patient attitude towards medication was negative, and he felt discouraged by other proposed treatment options.
Therefore, the patient was prescribed cannabis extract THC/CBD 8%/7% hybrid combination of sativa/ indica, with careful titration of the dose, starting from 2 mg THC 2x/d. Also, topical ointment with 2% gabapentin and 5% lidocaine, three times a day, was prescribed. Apart from that, the patient was offered ultrasound-guided suprascapular nerve block with lignocaine and 4 mg of dexamethasone, and was referred to a psychologist and a rehabilitation center.
During a 4-month follow-up visit in February 2023, the patient reported a significant reduction in pain following the suprascapular nerve block, and at 2 months post-procedure, the pain level decreased with NRS score of 0–1. Subsequently, symptoms gradually re-emerged; however, the patient maintained a 50% reduction in initial pain intensity.
The pain level during the visit was reported as NRS score of 3/10 and NRS max. score of 6/10, with significantly better mood, motivation, and functional improvement of the shoulder. The patient followed medical recommendations regarding the cannabis extract, and did not report any adverse effects apart self-limiting dizziness during first 2 days of the therapy.
Due to sufficient effect of the nerve block, cryoanalgesia of the suprascapular nerve was offered, but the patient refused the procedure. He was recommended medical cannabis extract without any changes in dosage, and was encouraged to continue with non-pharmacological treatment.
After 4 months, the patient contacted the clinic due to an increased neuropathic pain of the shoulder, with NRS score of 6/10. The dose of the cannabis extract was increased up to 3 mg of THC in the balanced hemp extract 2x/d and gabapentin was increased to 5% in topical ointment three times a day. In case of incidental pain, usually occurring during rehabilitation sessions, he was encouraged to take paracetamol 1 g max. 3x/d. Any additional medication proposed to the patient was not accepted. A physiotherapist’s consultation was scheduled for adjusting his regular exercise routine. Also, the patient was benefiting from psychological counseling, where relaxation methods was taught.
Further follow-up visits and medical online consultations in 3–6 months periods presented developing good strategies of coping with chronic pain by the patient using a combination of the cannabis extract and psycho-social interventions.
Most recent follow-up visit in May 2025 revealed the need to increase the dose of cannabis to 4 mg THC 3x/d due to prostate cancer (cT3N1M0) diagnose, which resulted in shoulder pain relapse and distress. No additional cancer-related pain yet observed. The patient remains under the care of the Pain Management Clinic.
Discussion
FSHD is a chronic disease with the risk of severe disability and chronic pain development. Pain is the most common complaint among patients, and the need for finding new paths to improve patients’ quality of life is crucial. The topic, however, requires further investigation and trials regarding not only genetics and underlying pathophysiology, but also possible therapeutical symptom management options. The pain management requires multidisciplinary approach, combining different interventions. Based on the described case study, it can be assumed that the use of cannabis medicines might play substantial role in improving the efficacy of treatment. However, further studies should be conducted among patients diagnosed with dystrophy.
Conclusions
Based on the case study described in the paper, it can be assumed that the pain management requires multidisciplinary approach, combining different interventions, such as cannabis medicines, nerve blocks, and rehabilitation. Nevertheless, further studies should be conducted among patients diagnosed with dystrophy, and guidelines should be formed.
Disclosures
- Institutional review board statement: Not applicable.
- Assistance with the article: None.
- Financial support and sponsorship: None.
- Conflicts of interest: None.
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