Collagen VI-related dystrophy is a group of disorders that affect skeletal muscles (which are the muscles used for movement) and connective tissue (which provides strength and flexibility to the skin, joints, and other structures throughout the body). Most affected individuals have muscle weakness and joint deformities called contractures that restrict movement of the affected joints and worsen over time. Researchers have described several forms of collagen VI-related dystrophy, which range in severity: Bethlem muscular dystrophy is the mildest, an intermediate form is moderate in severity, and Ullrich congenital muscular dystrophy is the most severe. Bethlem muscular dystrophy (also known as Bethlem myopathy) and Ulrich muscular dystrophy exist on a spectrum in terms of severity and prognosis of disease. Individuals with collagen VI-related dystrophy often have signs and symptoms of multiple forms of this condition, so it can be difficult to assign a specific diagnosis. The overlap in disease features, in addition to their common cause, is why these once separate conditions are now considered part of the same disease spectrum (source: Medlineplus.gov). Learn more about Bethlem myopathy. Learn more about Ulrich muscular dystrophy.

Progression of the disease largely depends on where an affected person sits on the spectrum of disease severity (between the milder Bethlem myopathy, the more severe Ulrich muscular dystrophy, or somewhere in between). Two individuals both diagnosed with a Collagen VI-related muscular dystrophy can have very different disease progressions, even if they have the same change at their genetic/DNA level. In almost all cases, weakening of the muscles, development of contractures (a fixed tightening of muscles that prevents normal movement of the associated joint), and decreased respiratory capacity are involved. People on the more mild end of the spectrum (previously and sometimes referred to as Bethlem muscular dystrophy) usually have low muscle tone (hypotonia) in infancy. Muscle weakness can begin at any age but often appears in childhood to early adulthood. The muscle weakness is slowly progressive, with about two-thirds of affected individuals over age 50 needing walking assistance, particularly when outdoors. Affected individuals usually develop contractures by adulthood, typically in their fingers, elbows, shoulders, and ankles. Older individuals may develop weakness in respiratory muscles, which can cause breathing problems. Some people with this mild form of collagen VI-related dystrophy have skin abnormalities, including small bumps called follicular hyperkeratosis on the arms and legs; soft, velvety skin on the palms of the hands and soles of the feet; and abnormal wound healing that creates shallow scars. The intermediate form of collagen VI-related dystrophy is characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in their fingers, elbows, shoulders, and ankles in childhood. In some affected people, the respiratory muscles are weakened, requiring people to use a machine to help them breathe (mechanical ventilation), particularly during sleep. (See sleep support section below) People born on the most severe end of the spectrum (previously and sometimes referred to as Ullrich congenital muscular dystrophy) have severe muscle weakness beginning soon after birth. Some affected individuals are never able to walk and others can walk only with support. Those who can walk often lose the ability, usually in early adolescence. Individuals with Ullrich congenital muscular dystrophy develop contractures in their shoulders, elbows, hips, and knees, which further impair movement. Many individuals with this form of the condition have loose joints (joint laxity) in the fingers, wrists, toes, ankles, and other joints. Affected individuals need continuous mechanical ventilation to help them breathe while sleeping, and some may need it in the daytime. As with all forms of collagen vi-related muscular dystrophies some people present with follicular hyperkeratosis; soft, velvety skin on the palms and soles; and abnormal wound healing. (source: Medlineplus.gov)

Currently, there is no cure for Collagen VI-related muscular dystrophies but disease progression can be managed (though not completely stopped) through regular physiotherapy and medical specialist consultations. Children and adults with Collagen VI-related muscular dystrophies should ideally be followed regularly in a specialist neuromuscular clinic (at least twice a year), with access to a multi-disciplinary team including physiotherapy, orthotic, respiratory, orthopedic, spinal and genetic specialists as needed (source: muscular dystrophy.uk). Many of those affected have also reported hydrotherapy, strength training, and consistent stretching exercises as particularly beneficial physical therapy activities. For some affected individuals, bracing, assistive devices (i.e., walker, wheelchair), or surgery may be helpful options to consider. Additionally, scientists and organizations like the Collagen VI Research Fund (Col6Fund) are contributing to current research efforts to find genetic therapies and eventually a cure for Collagen VI diseases.

The Muscular Dystrophy Association has a compiled list of affiliated US care centers (searchable by zip code), specifically serving those affected by muscular dystrophy. Most care centers are staffed with a multidisciplinary care team (which may include neurology, pulmonology, cardiology, physical therapy, occupational therapy, dietician, etc.). The care center can help with referrals to additional medical care and support, such as physical therapy and mobility devices. You can find a care center and more information here. (Please be aware that initial consultation appointments for new patients may need to be booked out for months in advance).

Offered in some states, Pediatric Palliative Care is a specialized medical care approach designed for children dealing with serious illnesses or life-limiting conditions (often termed pedipal). Unlike hospice care, which is end-of-life care, pediatric palliative care focuses on enhancing the quality of life for both the child and their family by providing comprehensive support, pain and symptom management, emotional and spiritual guidance, and assistance with decision-making. Support is also offered for siblings, such as art and music therapy. Child Life Specialists, who promote general well-being, are often offered.

Regular monitoring of respiratory function and proactive management by healthcare professionals are crucial in providing appropriate interventions and support to maintain optimal respiratory health in individuals affected by collagen VI-related muscular dystrophy. This might include sleep studies, cough assists, respiratory therapies, assisted ventilation, and other interventions aimed at supporting breathing function and improving quality of life. A few resources: Breathe with MD Cure CMD - Breathing 2022 SciFam: Pulmonary Care

Being diagnosed with this disease (or having a child diagnosed with this disease) can be scary, but you aren’t in it alone. Many families across the country, and even the world, are going through the same journey. Our site is a terrific place to start finding community. Please don't hesitate to reach out directly to us with a message or phone call. There are also Facebook community support groups you can join: Collagen VI Support Group (for those affected or families of those affected) Living with MD (only for those diagnosed with muscular dystrophy; not open to family members)

The below organizations may be able to provide funding for medical care and adaptive equipment: Laughing at My Nightmare Ariana Rye Foundation (for children) Chive Charities NMD United

Across the nation, there are summer camp programs open to children living with MD and other rare diseases. Two such programs include MDA Summer Camp (available to youth ages 8-17 who are living with neuromuscular disease) and Double H Ranch (which provides specialized programs and year-round support for children and their families living with chronic and serious illnesses). There are also adaptive sports programs such as Move United and the US Power Soccer Association which allow adults and children with disabilities to participate in recreational sports.

Registries help track the prevalence, incidence, and natural history of disorders. Researchers use this data to better understand the disease, its causes, risk factors, and patterns of occurrence. This information can be crucial for developing new treatments, improving existing ones, and identifying areas for further research. Some registries you may consider joining: https://cmdir.org/ https://collagen6.org/

As an organization we are purely focused on funding research. However, there are many great organizations with patient resources and registries: ​​​ Cure CMD https://www.curecmd.org ​ Fundacion Noelia https://fundacionnoelia.org/en/ ​ Global Registry for COL-6 Related Dystrophies https://collagen6.org/ ​ Muscular Dystrophy Association https://www.mda.org

Jillian and Kevin McGoff are parents to two wonderful children, one of which is affected with intermediate collagen vi-related muscular dystrophy. Jillian holds PhD in Biology and Biomedical sciences from UT Health Sciences MD Anderson Cancer Center with a focus on cancer genomics. She is currently a Professor of Biology and genetics at Salve Regina University and is the Scientific Director of Collagen VI Research Fund (col6fund). Kevin holds a Juris doctorate from University of New Hampshire Franklin Pierce School of Law and is currently Assistant General Counsel for IP and Innovation at Brooks Automation. They noticed their youngest son (then 2 years old) walking with a turned-in toe and consulted a physical therapist, suspecting a need for correction. Genetic results confirmed a collagen vi-related muscular dystrophy diagnosis in 2019, altering our son's future mobility and potentially requiring breathing assistance. As they grappled with these challenges, Jillian’s background in biomedical sciences and genomics, and Kevin’s engineering expertise led us to connect with researchers and specialists, igniting hope for personalized treatment and we started col6fund to harness science and engineering to empower children and drive progress in human health. Kevin and Jillian can be reached at info@col6fund.org

Caroline LeMay is in her mid-20s and lives in Chicago, IL with her husband & two Samoyed dogs. She was diagnosed with collagen VI muscular dystrophy at age 10. Caroline holds a Bachelor’s Degree in Government from Harvard College and an MBA from Harvard Business School. Currently, Caroline works as a Chief of Staff of an international nonprofit organization but has also held roles in government and the finance industry. In her spare time, she enjoys traveling, trying new restaurants and volunteering with nonprofit organizations like Col6Fund. Caroline is passionate about empowering children & adolescents diagnosed with muscular dystrophy (along with their parents) to think and live ambitiously, regardless of physical limitations. Caroline can be reached by emailing carolinezheng8@gmail.com or via LinkedIn. (If reaching out, please include “Collagen VI Support” in your message subject.)

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