BACKGROUND:It remains unclear for how long the benefits of pulmonary rehabilitation (PR) last in interstitial lung disease (ILD). An increasing number of ILD patients complete PR and it is vital they be offered the most beneficial approaches.METHODS:This is a retrospective, observational study of a cohort with ILD who had completed PR. Incremental shuttle walk (ISWT) and chronic respiratory disease questionnaire (CRDQ) were compared before PR, at course completion, and 6/12 months follow-up. Focus group discussions with ILD participants who had completed PR and their carers established qualitative views on existing and potential future PR provision.RESULTS:79 participants with ILD were identified at course completion, with 39 followed to 12 months. 11 participants died during follow-up. Initial benefits from PR were not sustained at 6 months (ISWT change 0.0m (95% CI-23.2 to 23.2 m), CRDQ change 2.5 (95% CI-2.4 to 7.4)) and 12 months (ISWT change-0.7 m (95% CI-37.3 to 35.9 m), CRDQ change 4.0 (95% CI-2.2 to 10.2)). Continued home exercise gave longer lasting benefit in exercise capacity. Focus group discussions highlighted the value attached to PR and suggested areas for improvement.CONCLUSIONS:Standard PR gives initial benefits in participants with ILD who complete the course, however these are not sustained. Tailored approaches to this group would be appreciated by this group and should be explored.

FSHD (~1 in 20,000 individuals) is an autosomal dominant but epigenetically regulated disorder, with characteristic pattern of progressive muscle involvement commencing in the face and shoulder-girdle. Two clinically indistinguishable forms differ in molecular basis of epigenetic regulation, but are underpinned by hypomethylation of 4q35, causing aberrant DUX4 expression (toxic transcription factor). FSHD1 (OMIM 158900) (95% cases) is caused by contraction of D4Z4 repeats, resulting in allele specific hypomethylation. FSHD2 (OMIM 158901) (~3% of cases) is contraction independent, caused by mutations in the SMCHD1 gene encoding a chromatin modulating enzyme, resulting in definitive hypomethylation and chromatin relaxation of D4Z4 array on both 4q35 alleles. A permissive haplotype at 4q35 is required for clinical expression of both FSHD1 and 2. Bristol Genetics Laboratory provides a UKGTN specialist diagnostic service for FSHD processing >500 UK/international referrals annually. Clinically typical (assessed by clinical proforma) deletion negative patients (4.8% referrals) are tested for FSHD2 by 4q35 methylation quantification (pyrosequencing) followed by SMCHD1 sequencing of hypomethylated patients. A diagnosis of FSHD2 has been confirmed in 15/45 cases, with 12/15 novel SMCHD1 mutations detected (the remainder are deletions of the intron/exon 25 boundary, the first ‘hotspot’ identified in SMCHD1). We have compared the clinical severity of FSHD2 and age/sex matched FSHD1 patients and family testing has been undertaken for 3 cases. FSHD2 exhibits digenic inheritance, and this increases the complexity of genetic counselling, as the risk to offspring is between 25 and 50%, depending on the haplotypes of the wider family. We present an FSHD service overview, the results of the FSHD2 study and interesting cases highlighting the clinical utility of genetic testing, and family risks associated with this digenic disease.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies with an estimated prevalence of 1:25.000. Pain is one of the most debilitating symptoms in FSHD patients and it is assumed that it affects negatively both mobility and quality of life (QoL). We aim to describe the characteristics and intensity of pain and QoL in FSHD type 1 patients registered with the UK FSHD Registry. The 416 patients registered were asked to complete questionnaires assessing persistent and recurrent localised pain, together with validated questionnaires (Short-Form McGill questionnaire and the Individualized Neuromuscular Quality of Life Questionnaire (INQoL)). The pain questionnaires were completed by 379 patients; persistent pain was reported by 50% and recurrent localised pain by 43%. Patients with localised pain described it as discomforting (16%) and for persistent pain it was described as discomforting in 19.7% and as distressing in 14.4% of cases. The shoulder was the most affected location for both persistent (40.4%) and localised pain (23.6%). The population with localised pain reported no change in muscle bulk or weakness after the painful episodes. INQoL was completed by 354 patients; the overall mean score was 50.87 where 100 is the greatest impact on QoL. Muscle weakness has the greatest impact (mean 66.32) followed by fatigue (mean 46.89). Activities and body image were the life domains most affected (mean 57.07 and 55.21). QoL is not significantly affected by current age, age of onset of disease or sex. Pain had a moderate impact on QoL (mean 37). INQoL score correlated positively with ambulation (p < 0.001). Score for ambulant patients was 41.6 and non-ambulant patients 61.5. In conclusion patients with FSHD have a high occurrence of pain that is most frequently persistent and has no correlation with ambulation status of the patient. It seems that pain has a moderate impact on QoL. The most affected domains are activities and body image.