Movement Disorders, Neuromuscular Diseases, Paediatric Neurology, Rare Diseases CE/CME ACCREDITED Watch Time: 46 mins

touchMDT Multidisciplinary insights on the symptoms, diagnosis and modern medical management of Duchenne muscular dystrophy

A multidisciplinary team and a patient advocate discuss the symptoms, diagnosis and modern medical management of Duchenne muscular dystrophy

Overview & Learning Objectives

Patient with Duchenne muscular dystrophy

Paediatrician, neurologist and patient advocate

A paediatrician, a neurologist and a patient advocate who is the parent of a patient with Duchenne muscular dystrophy, discuss the traditional and non-traditional signs and symptoms of the condition.

Expert Spotlight
Dr Laura Kauffman
Weissbluth Pediatrics, Chicago, IL, USA
Prof. Nancy Kuntz
Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Mr Filippo Buccella
Parent Project APS, Rome, Italy

Dr Laura Kauffman, Prof. Nancy Kuntz and Mr Filippo Buccella discuss the clinical signs and symptoms of Duchenne muscular dystrophy, including non-traditional symptoms, and recognizing when to refer patients from primary to specialist care.

Listen on the Go

Learn More Back to MDT Hub Time: 10:11
 
Neurologist, geneticist and patient advocate

A neurologist, a geneticist and a patient advocate who is the parent of a patient with Duchenne muscular dystrophy discuss the key considerations for the diagnosis of Duchenne muscular dystrophy and pre-symptomatic screening for the condition.

Expert Spotlight
Prof. Nancy Kuntz
Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Dr Nadia Merchant
Children’s National Hospital, Washington, DC, USA
Mr Filippo Buccella
Parent Project APS, Rome, Italy

Prof. Nancy Kuntz, Dr Nadia Merchant and Mr Filippo Buccella discuss the key considerations for the diagnosis of Duchenne muscular dystrophy and pre-symptomatic screening for the condition.

Listen on the Go

Learn More Back to MDT Hub Time: 11:45
 
Paediatrician, geneticist and neurologist

A paediatrician, a geneticist and a neurologist discuss established treatments and the role of the multidisciplinary team in the management of Duchenne muscular dystrophy.

Expert Spotlight
Dr Laura Kauffman
Weissbluth Pediatrics, Chicago, IL, USA
Dr Nadia Merchant
Children’s National Hospital, Washington, DC, USA
Prof. Nancy Kuntz
Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Dr Laura Kauffman, Dr Nadia Merchant and Prof. Nancy Kuntz discuss established treatments and the importance of the multidisciplinary team in the management of Duchenne muscular dystrophy.

Listen on the Go

Learn More Back to MDT Hub Time: 12:29
 
Neurologist and geneticist

A neurologist and a geneticist discuss the novel pharmacological and gene therapies that are available or emerging for the management of Duchenne muscular dystrophy.

Expert Spotlight
Prof. Nancy Kuntz
Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Dr Nadia Merchant
National Children’s Hospital, Washington, DC, USA

Prof. Nancy Kuntz and Dr Nadia Merchant discuss the novel pharmacological and gene therapies that are available or emerging for the management of Duchenne muscular dystrophy.

Listen on the Go

Learn More Back to MDT Hub Time: 11:22
 
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Learning Objectives & Overview
Overview

In this activity, a multidisciplinary team of specialists plus a patient advocate share their perspectives on recognizing the signs and symptoms of Duchenne muscular dystrophy, key considerations for the diagnosis and pre-symptomatic screening of the condition, and emerging novel therapies for its medical management.

This activity is jointly provided by USF Health and touchIME. read more

Target Audience

This activity has been designed to meet the educational needs of cardiologists, clinical geneticists, endocrinologists, gastroenterologists, neurologists, nurse specialists, orthopaedic surgeons, paediatricians, paediatric neurologists, physiotherapists, primary care physicians and pulmonologists involved in the management of Duchenne muscular dystrophy.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Prof. Nancy Kuntz discloses: Advisory board/panel fees from Argenx, Astellas, Biogen, BioMarin, Genentech, Novartis, Parexel, Regeneron and Sarepta Therapeutics. Grants/research support from Argenx, Astellas, Biogen, BioMarin, Genentech, Novartis and Sarepta Therapeutics.

Dr Nadia Merchant discloses: Advisory board/panel fees from Biomarin and Pfizer. Grants/research support from Biomarin.

Dr Laura Kauffman has no interests/relationships or affiliations to disclose in relation to this activity.

Mr Filippo Buccella discloses: Advisory board/panel fees from PTC Therapeutics.

Content reviewer

Deborah Cragun, PhD, MS, CGC, has no financial interests/relationships or affiliations in relation to this activity

Touch Medical Directors

Sola Neunie has no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu.

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 1.0 AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).

Advanced Practice Providers

Physician Assistants may claim a maximum of 1.0 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 14 March 2023. Date credits expire: 14 March 2025.

If you have any questions regarding credit please contact cpdsupport@usf.edu.

Learning Objectives

After watching this activity, participants should be better able to:

  • Recognize the signs and symptoms of Duchenne muscular dystrophy
  • Discuss the diagnosis of Duchenne muscular dystrophy and the challenges associated with pre-symptomatic screening for the condition
  • Describe the medical management of Duchenne muscular dystrophy and the importance of the multidisciplinary team
Faculty & Disclosures
Prof. Nancy Kuntz

Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Prof. Kuntz, Professor of Paediatrics and Neurology at the Northwestern Feinberg School of Medicine in Chicago, Illinois, is a child neurologist with additional board certifications in paediatrics, electrodiagnostic medicine and autonomic medicine. She is the medical director of the Mazza Foundation Neuromuscular Disorders Program, the PPMD Duchenne Care Center and the MDA Care Center at Lurie Children’s Hospital of Chicago. read more

Prof. Kuntz is interested in the early diagnosis of neuromuscular disorders and the development of less invasive methods of neuromuscular diagnosis in children, such as electrical impedance myometry, ultrasound, nerve excitability and motor unit mapping. She serves as site principal investigator in a number of natural history and clinical treatment trials for neuromuscular disorders, including spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and X-linked myotubular myopathy.

Prof. Nancy Kuntz discloses: Advisory board/panel fees from Argenx, Astellas, Biogen, BioMarin, Genentech, Novartis, Parexel, Regeneron and Sarepta Therapeutics. Grants/research support from Argenx, Astellas, Biogen, BioMarin, Genentech, Novartis and Sarepta Therapeutics.

Dr Nadia Merchant

Children’s National Hospital, Washington, DC, USA

Dr Nadia Merchant is a paediatric endocrinologist and geneticist at Children’s National Hospital, George Washington University, Washington, DC, USA. Dr Merchant’s clinical interests include bone health and the intersection of genetics and endocrinology. In her current role, she is involved in multiple multidisciplinary clinics: the Muscular Dystrophy Clinic; the Bone Health Program with Orthopedics; the White Matter Clinic, specifically for X-linked adrenoleukodystrophy; and the 22q Deletion Syndrome Clinic. read more

Dr Merchant earned her MD at Weill Cornell Medical College-Qatar, Doha, Qatar, and completed residencies in paediatrics at Wright State University Boonshoft School of Medicine, Dayton, OH, and in clinical genetics at Baylor College of Medicine/Texas Children’s Hospital Houston, TX. She completed her paediatric endocrinology fellowship training at Baylor College of Medicine/Texas Children’s Hospital. Working at an academic centre in several multidisciplinary clinics, mentoring residents, fellows and genetic counsellors, and participating as a co-investigator in clinical trials has led Dr Merchant to build her clinical expertise and allowed her to pursue research projects to improve clinical care.

She has been involved in projects focussing on improving patient management of endocrinopathies in several genetic conditions, such as osteogenesis imperfecta, McCune-Albright syndrome, growth disorders, skeletal dysplasias, 22q11 deletion syndrome and Duchenne muscular dystrophy. Dr Merchant’s hope is to continue to improve awareness, guidelines and clinical management for children with rare diseases.

Dr Nadia Merchant discloses: Advisory board/panel fees from Biomarin and Pfizer. Grants/research support from Biomarin.

Dr Laura Kauffman

Weissbluth Pediatrics, Chicago, IL, USA

Dr Laura Kauffman is a board-certified paediatrician working at Weissbluth Pediatrics, a private practice in Chicago, IL, USA. She served as a paediatrician in both Arlington Heights and the Young Family Health Center in Chicago before joining Weissbluth Pediatrics. read more

Dr Kauffman is married with two children and her interests include photography and travelling. She is fluent in Spanish, and is particularly interested in childhood allergies and asthma.

Dr Laura Kauffman has no interests/relationships or affiliations to disclose in relation to this activity.

Mr Filippo Buccella

Parent Project APS, Rome, Italy

As a father of a young man affected by Duchene muscular dystrophy, Mr Buccella has been working since 1996 to advocate for Duchenne and Becker muscular dystrophy patients in Italy, Europe and worldwide, always convinced that their work could open a new path for many other similar diseases/conditions. read more

Mr Buccella is also a pharmacist and his knowledge of the mechanisms of action of drugs and/or drug development has been helpful when translating complicated topics for families and patients. He has been involved with patient registries from the beginning and has set up a national DMD/BMD patient registry in Italy, which has been instrumental for conducting clinical trials

Mr Filippo Buccella discloses: Advisory board/panel fees from PTC Therapeutics.

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Question 1/5
If you suspect a patient may have DMD, which of the following motor signs would you consider monitoring for?
Correct

The 2018 DMD Care Considerations Working Group recommendations identify Gower’s sign when rising from the floor as one of the most commonly observed motor signs in patients with DMD.

Abbreviation

DMD, Duchenne muscular dystrophy.

Reference

Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–67.

Question 2/5
Approximately what percentage of patients have a de novo variant of DMD (i.e. lack a family history of this condition or mother carrying a variant)?
Correct

DMD is caused by de novo germline variants in approximately one third of patients. Mothers who are not somatic carriers of DMD gene variants, but who have a child with DMD, are at risk of having another child with DMD owing to germline mosaicism.

Abbreviation 

DMD, Duchenne muscular dystrophy.

Reference

Duan D, et al. Nat Rev Dis Primers. 2021;7:13.

Question 3/5
Your patient with suspected DMD underwent testing for serum CK and elevated levels were found. To confirm if your patient has DMD, which of the following diagnostic steps would you take?
Correct

Following the detection of elevated serum CK, the 2018 DMD Care Considerations Working Group recommend the next step in the diagnostic pathway should be DMD gene deletion/duplication testing. Identification of DMD gene variants is sufficient for a diagnosis of DMD.

Abbreviations 

CK, creatine kinase; DMD, Duchenne muscular dystrophy.

Reference

Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–67.

Question 4/5
Your patient has DMD and is receiving glucocorticoid therapy. At an annual clinical visit to monitor symptoms, the presence of a low-trauma vertebral fracture is detected. The patient’s calcium and vitamin D levels and renal function are determined to be normal. What would be your next step in treating your patient?
Correct

The use of intravenous bisphosphonates as first-line therapy for the treatment of osteoporosis in patients with DMD is recommended by the 2018 DMD Care Considerations Working Group for even mild and asymptomatic vertebral fractures, as they are predictive of future fractures in both children and adults.

Abbreviation

DMD, Duchenne muscular dystrophy.

Reference

Birnkrant DJ, et al. Lancet Neurol. 2018;17:347–61.

Question 5/5
The aim of exon-skipping therapy in patients with DMD is to:
Correct

Exon-skipping therapy aims to treat patients with deletion variants that may be rectified by inducing favourable exon skipping. This enables reframing of the gene transcript and consequent partial restoration of functional muscular dystrophin.

Reference

Eser G, Topaloğlu H. Genes (Basel). 2022;13:1241.

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