Consensus-based care recommendations for adults with myotonic dystrophy type 1

Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments. Described as “one of the more variable diseases found in medicine,” myotonic dystrophy type 1 (DM1) is an autosomal dominant, triplet-repeat expansion disorder that affects somewhere between 1:3,000 and 1:8,000 individuals worldwide.1 There is a modest association between increased repeat expansion and disease severity, as evidenced by the average age of onset and overall morbidity of the condition. An expansion of over 35 repeats typically indicates an unstable and expanding mutation. An expansion of 50 repeats or higher is consistent with a diagnosis of DM1. DM1 is a multisystem and heterogeneous disease characterized by distal weakness, atrophy, and myotonia, as well as symptoms in the heart, brain, gastrointestinal tract, endocrine, and respiratory systems. Symptoms may occur at any age. The severity of the condition varies widely among affected individuals, even among members of the same family. Comprehensive evidence-based guidelines do not currently exist to guide the treatment of DM1 patients. As a result, the international patient community reports varied levels of care and care quality, and difficulty accessing care adequate to manage their symptoms, unless they have access to multidisciplinary neuromuscular clinics. Consensus-based care recommendations can help standardize and improve the quality of care received by DM1 patients and assist clinicians who may not be familiar with the significant variability, range of symptoms, and severity of the disease. Care recommendations can also improve the landscape for clinical trial success by eliminating some of the inconsistencies in patient care to allow more accurate understanding of the benefit of potential therapies

Orbital ‘pseudo-abscess’ in a patient with spontaneous subluxation of globe: A case report

Purpose: We describe this case and review the literature, to allow this to be a cautionary tale in the interpretation of fluid collections in the setting of spontaneous globe subluxations (GS). Observations: A 58 year old female, with a past medical history of globe subluxation, was diagnosed radiographically with an orbital abscess, and managed with an orbitotomy. However, no abscess was identified operatively and subsequent imaging showed only extravasation of serous fluid. Conclusions and importance: We postulate that in the case here, the fluid collection posterior to the globe was in fact due to increase venous congestion and decrease venous return posteriorly from the globe to the cone, leading to an efflux of clear serous fluid. We postulate that in the case of GS without other clinical indications suggesting orbital abscess one can consider a posterior globe collection of fluid to be an extravasation of serous fluid, secondary to increased venous congestion

Ulcerative keratitis in mycosis fungoides.

PURPOSE: To present a case of ulcerative keratitis and impending corneal perforation in a patient with mycosis fungoides (cutaneous T-cell lymphoma) that developed eyelid involvement. METHODS: Case report analysis. Cultures and biopsies of the right cornea, conjunctiva, and eyelids were obtained. Biopsy tissue was examined with histologic and immunohistologic stains. RESULTS: This patient with mycosis fungoides involving the eyelids developed corneal exposure and bacterial keratitis with impending corneal perforation. Lamellar keratoplasty and permanent tarsorrhaphy were performed to protect the globe from perforation. DISCUSSION: Mycosis fungoides involving the eyelids is capable of causing severe ocular tissue injury without direct infiltration of the malignant lymphocytes. Preventative medical and surgical measures must be taken to protect the globe

Consensus-based care recommendations for adults with myotonic dystrophy type 1

International audiencePurpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments