2024-2025
Dysferlin Registry: Annual Survey Report
2024-2025
Dysferlin Registry: Annual Survey Report
For those who choose to participate, the result is a series of snapshots illuminating their experiences with dysferlinopathy over the years. Over time, this creates a non-clinical map of our community that will support recruitment efforts for future clinical studies. This makes the Annual Survey a powerful tool for us as we pursue our mission of finding a cure.
What follows is a report capturing some of the information we at the Jain Foundation have learned from the survey so far. With eighteen months of responses — and counting — we’re excited to give the data back to the community in this form.
Before you read: This report explores disease progression and loss of ability. If you are not prepared to grapple with those themes today, feel free to stop reading here and return another time.
Lower Body Progression Groups
We ask participants to select which of eight different lower body ambulatory stages best describes them. These stages are based on screening interviews used in our Clinical Outcome Study (COS).
This surveying approach is self-reported and non-clinical; it measures specific ability rather than muscle physiology directly. Categories may also be fluid, such that the same person might assess their progression differently between good days and bad days. As a result, this data can only be understood as a low-accuracy view of those who have connected with the Jain Foundation, logged into the Registry, and opted to participate in the Annual Survey. These data cannot be used to say anything definitive about trends in dysferlinopathy patients in general.
When you read on, you’ll see percentages indicating how many survey participants identified with each stage (as of their most recent survey response). If you’d like to learn more about the responses of registry members in that group, you may press a button and unfold a deeper look at that data.
Remember: This data cannot be used to draw any generalizations about people with dysferlinopathy. This report is intended only to reflect the current demographics of registry members who chose to participate — not as a representative sample of the global dysferlinopathy population.
Running
Registry members in this lower body ambulatory cohort describe their best survey-measured ability as running — anything from a short distance to involvement in cross-country sports. Uniquely, this group contains some people with dysferlinopathy who haven’t noticed any symptoms yet. Because of genetic testing, these individuals know they have mutations in DYSF and have connected with the Jain Foundation, but have not yet experienced symptoms.
When studying dysferlinopathy, a more relevant predictor of disease progression is not age, but rather ‘disease duration’: how long it’s been since a patient first noticed muscle weakness, or the length of time since the onset of their disease.
Those who reported they can run include:
- 35.7% of survey respondents 0-2 years progressed
- 11.6% of those 3-8 years progressed
- 2.3% of those 9-15 years progressed
- 1.7% of those 16-29 years progressed
- and only 1.8% of those over 30 years progressed
People in this category tend not to have experienced symptoms in their upper body quite yet; 90.9% of those who can run also say they retain the highest level of upper body function this survey measures.
Compared with other groups, survey participants rating themselves in this category were more likely to mention fatigue or loss of energy as one of their new symptoms. They describe experiencing new struggles with stairs, tiredness in their legs, and energy crashes.
Walking Unsupported
People in this lower body ambulatory describe their best ability as walking without the aid of supports including canes, railings, and caretakers (at least for a couple of blocks).
Many survey participants early in their disease duration self-identify with walking unsupported, including:
- 42.9% of respondents in their first two years
- 56.5% (a majority) of those 3-8 years progressed
- 28.7% of those 9-15 years progressed
- 12.6% of those 16-29 years progressed
- 1.9% of respondents over thirty years of disease progression
While generally people with dysferlinopathy will experience early muscle weakness in their lower body before starting to lose function in their upper body, survey results underscore how disease progression can be very different between different individuals. Within this cohort, a large proportion (83.2%) report they can touch their hands together above their head without bending their elbows. While less common, some patients in this group indicate that they’ve experienced a far faster disease progression in the upper body compared to the lower. A combined 7.1% of patients in this category reported their highest ability is to raise both hands to shoulder level, but no higher; some report that while they can still walk unsupported, their highest ability is to lift lighter items like pens.
At this stage, many patients wrote about falling frequently. Some describe how a fear of unexpected falls makes them feel unsafe and vulnerable when they go outside. Others mentioned that although they are not in the habit of bringing a cane on walks, they feel more secure when they do.
Walking With Unilateral Support
Patients in this lower body ambulatory describe their best ability as walking with the aid of devices like a cane, a single crutch, or a supportive hand (at least for a couple of blocks).
People from all different lengths of disease duration identified with walking using unilateral support, including:
- 14.2% of participants 0-2 years progressed
- 14.5% of those 3-8 years progressed
- 20.9% of those 9-15 years progressed
- 11.3% of those 16-29 years progressed
- 3.8% of those over 30 years progressed
At this stage, the proportion of registry members mentioning weakness as one of their new symptoms is higher. So is the proportion mentioning some form of lost mobility (nearly 30% of those who shared new symptoms and rely on unilateral support mentioned lost mobility in some form) – often these two are linked, with a loss of ability arising from new weaknesses. People also wrote in describing new compensations, like pushing against tables with their arms when rising from a seated position or turning over and using their arms to help rise from low chairs. Others discussed how they’ve begun incorporating mobility aids like chair seats which raise and lower automatically, bed rails, and stair rails into their daily routine alongside their walking supports.
Another theme among this group is changes in balance. Many wrote in discussing how they’ve felt more unstable in the past year, increasing the challenges of walking. They’ve had to rapidly develop new compensations to navigate the world while retaining independence. Walkers, rails installed in the home, and especially canes are described as essential aids by a high proportion of those who answered.
A slight majority of participants in this category said they retained the highest level of upper body function the Survey measures (59.4%), but the rest encompassed the full spectrum of upper body ability.
Walking With Bilateral Support
People in this group describe their best ability as walking with the aid of two-handed devices like crutches, a walker, or a combination of a cane and a supportive hand (at least for a couple of blocks).
A relatively small portion of survey respondents identified with this category compared with other groups, so there is less data to report here. What data there is may not be representative.
Those who selected this option include:
- No registry members in their first eight years of disease duration
- 4.7% of respondents 9-15 years progressed
- 7.4% of those 16-29 years progressed
- 3.4% of those over thirty years progressed
We saw a very diverse spread of upper body ability among this group of registry members. However, most individuals report survey-measured upper body progression at this stage: 33.3% of survey participants in this group report the ability to touch their hands together over their head, with the remaining 66.7% of participants reporting themselves elsewhere along the scale of upper body ability.
Compared with other groups, a higher proportion of these respondents mention losses in mobility. Many discuss how their major challenges include stairs and rising from a seated position.
Bilateral Supports Supplemented with Wheelchair Use
People in this group get around using different strategies and assistive devices, including wheelchairs. They might use railings and lean on objects to get around the house, or use walkers for short distances; some might be beginning to incorporating a wheelchair into their daily routine.
Those who selected that they can walk with bilateral supports (but will occasionally use a wheelchair) include:
- No registry members in their first two years of disease duration
- 5.8% of those 3-8 years progressed
- 14.7% of those 9-15 years progressed
- 11.7% of those 16-29 years progressed
- 1.9% of those over thirty years progressed
At this stage, many respondents mention new losses of balance that make walking more treacherous. For some, it’s helped to install railings around the house, but falling continues to be a risk. Others choose to use canes inside the house as well as outside. Some in this group mentioned investing in an electric wheelchair to conserve their strength.
At this stage, 79.9% of respondents have begun to experience survey-measured weakness in their upper body. A combined 56.4% report they can raise their arms to shoulder-level, and a combined 81.4% report they can raise their hands to their mouths.
Using a Wheelchair, Walker, or Scooter for Out-of-Home Activities
People in this group may be able to walk for a few steps (or across a room) with the use of supports. However, they’ll use a wheelchair or other similar assistive devices when leaving the house.
This ambulatory category represents another large slice of our diverse registry community, including:
- No one in their first two years of disease duration
- 7.2% (a comparatively small proportion) of those 3-8 years progressed
- 11.6% of those 9-15 years progressed
- 25.1% of those 16-29 years progressed
- 17.9% of those thirty-plus years progressed
Many individuals at this stage mention they’re having trouble rolling over in bed, getting up out of bed, or getting comfortable while they’re trying to sleep. For many of those whose lower body has progressed to this stage, weakness in the upper body has begun to significantly impact their daily routine as well: several individuals discuss how brushing, tying up, or washing their hair has become difficult in the last year.
Interestingly, several individuals report a specific painful “tingling” sensation in their limbs. The proportion of individuals mentioning swelling or inflammation is also much higher in this ambulatory than any other group: people mention loss of circulation in their lower body, sometimes accompanied by a “purple” appearance in the feet or legs.
Another common theme among this group is loss of balance. Participants describe having trouble keeping their trunk straight or feeling like any time on their feet risks a fall, and compensations related to standing are beginning to wane. Many patients also describe the instrumental technologies that help them in their daily lives, from raised seats and shower chairs to new electric wheelchairs.
Similarly, this group seems to grapple more than other ambulatory categories with fresh losses of independence or autonomy. Some of the tasks they are used to accomplishing on their own, like walking, sitting up, and rising from a seated position, now require the support of another person like a carer or a family member — or of assistive technology.
At this stage, a large majority of respondents have begun to experience some form of survey-measured weakness in their upper body. A combined 51.5% report they can raise both arms to shoulder level, and a combined 86.6% report they can bring a hand to their mouth.
Using a Wheelchair Full-Time
People in this group use a wheelchair all the time, and can perform a standing transfer.
As disease duration increases, it becomes more likely that any given registry member will fall into this category.
- It was rare for respondents in their first eight years of the disease to identify with this group (though some did)
- 7.8% of those 9-15 years progressed
- 8.7% of those 16-29 years progressed
- 13.2% of those over thirty years progressed
At this stage, a substantial 93.3% of respondents have begun to experience some form of survey-measured progression in their upper body. A combined 40.0% report they can raise their arms to shoulder level, and a combined 75.5% report they can bring a hand to their mouth.
Using a Wheelchair Full-Time (Without Transfers)
People in this group use a wheelchair full-time, and cannot perform a standing transfer. This stage is the most common lower body ambulatory stage among members of the Registry who participated in the Annual Survey – and it still represents only a fraction of the full group, which is a testament to the diversity of our community.
Survey participants who indicated they use a wheelchair full-time and cannot perform a standing transfer include:
- No respondents in their first two years of disease duration
- 4.3% of those 3-8 years progressed
- 9.3% of those 9-15 years progressed
- 21.6% of those 16-29 years progressed
- 55.7% of those over thirty years progressed
At this stage, almost all respondents experience survey-measured muscle weakness in their upper body that impacts their daily habits. A combined 12.9% report they can raise their arms to shoulder level, and a combined 56.4% report they can bring a cup to their mouth. 8.9% have experienced sufficient upper body progression that they can no longer hold a pen.
Though this group is unified by their answers to a question about their lower body, people who can no longer perform a standing transfer shared a tendency to mention their hands when they reflected on what new symptoms they might have noticed in the last year. They discuss how a loss of strength in their hands has changed their ability to pilot their wheelchair, changes in how they write and type, and losses in grip strength. By the same token, these were also the respondents least likely to mention their legs. As disease progression continues, priorities change.
Naturally, many of these patients mention their wheelchairs in their responses – some mention a changing relationship with or increased reliance on their chairs, and others mention modifications or new functionality they’ve added in the past year. Other mobility aids include adaptations as simple as straps to help maneuver and secure parts of the lower body, or as complex as a bed with automated lifting capabilities. On a smaller scale, devices like signature stamps can help maintain routines even as strength wanes.
Upper Body Progression Groups
We also ask survey participants to choose which of seven upper body ambulatory categories most closely describes their “best ability”.
These categories are a bit different from the lower body options: rather than asking about habits and supports for navigating the world, they instead ask you to assess what your body can do right now. This means these categories might be even looser or more malleable than the lower body categories. The same person, at the same stage of disease progression, might have good days and bad days that result in them answering differently and create the numerical illusion of “improvement” – even as disease progression continues. In this way, survey answers reflect how reductive such categories are and underscore the importance of qualitative data like our free response questions.
As you read on, you’ll see percentage breakdowns of what proportion of survey participants identified with each category in their most recent survey response. If you’d like to learn more about the responses of registry members in that group, you may press a button and unfold a deeper look at that data.
Remember: This data cannot be used to draw any generalizations about people with dysferlinopathy. This report is intended only to reflect the current demographics of registry members who chose to participate — not to present a representative sample of the global dysferlinopathy population.
Touching Hands High Above the Head
This is the highest ability measured by this Survey, so it captures a wide swath and diversity of registry members — especially because this was the most commonly selected upper body descriptor among survey participants. Some in this category may not have noticed any upper body progression at all yet, while others may be feeling losses not recognized by the scaling of these questions.
Survey respondents who selected this option included:
- A majority — but not all — survey participants with under two years of disease duration (71.4%)
- 76.8% of respondents 3-8 years progressed
- 44.2% of those 9-15 years progressed
- 27.3% of those 16-29 year progressed
- 8.5% of those with a disease duration over thirty years
Most participants who identify with this upper body category are relatively early in their lower body progression, too: a combined 80.8% of those who can touch their hands above their head with elbows extended also said they run, walk, or walk with unilateral assistance. However, other people with dysferlinopathy reported they can continue to touch their hands above their head fully extended even as their lower body status becomes much more pronounced. Registry members from every different lower body status — from those who can run to those who are in a wheelchair full-time — identified with this upper body category.
While this is the “least affected” upper body category measured by the Survey, many participants discuss upper body progression when they describe their new symptoms. They describe losses in strength of the arms, weakness in their hands, and numbness or stiffness in the fingers and hands, as well as shoulder pain, back pain, and associated difficulty getting to sleep. Some have already noticed visible atrophy in the muscles of their arms or shoulders. Fatigue is a theme.
Many in this stage of progression have felt disruption to their daily routine attributed to dysferlinopathy, having trouble with applying shampoo, lifting objects, or helping compensate for lower body progression. While this is the highest measured upper body category of the Survey, it holds a wide range of registry members – many of whom are already noticing a great deal of upper body progression.
Touching Hands Above the Head
This category contains people who report their highest survey-measured ability is to reach high enough to touch their hands together over their head, but only if they bend their elbows.
This is a stage which occurs slightly more frequently among people with one or two decades of disease duration. In specific:
- 6.0% of respondents in their first eight years since noticing muscle weakness
- 17.8% of those 9-15 years progressed
- 14.3% of the 16-29 years progressed
- 5.7% of those with over thirty years of progression
People who identify with this category experience a wide range of different lower body states: you’d be hard-pressed to guess the progression of someone’s lower body just by knowing they can touch their hands above their head if they bend their arms at the elbow. A combined 40.3% of this group is distributed from ‘running’ to ‘walking with unilateral support’. Another 22.4% use bilateral supports to walk, sometimes supplemented by wheelchair use; and a combined 37.3% primarily navigate the world in a wheelchair. All these people with dysferlinopathy might have very different daily routines and experiences with the disease – but they’re united by a shared disease progression in their upper bodies.
When discussing new symptoms over the past year, many individuals who identify with this upper body category discuss feelings of heaviness and fatigue in their shoulders, arms, and hands. Some discuss new compensations for tasks like opening jars; others talk about low-impact activities they are pursuing to keep their dexterity, like music or art. Some mention sensations of tingling or numbness in the extremities at this stage.
Reaching up to the Shoulder Level
People in this category rate their highest ability (out of the upper body options survey options) as raising both arms up to shoulder height. This means the above survey options (touching the hands above the head, with or without bent elbows) do not describe them.
The demographics of disease duration among participants who selected this option are quite similar to the last stage (“Can lift both arms above head to touch hands together but need to bend arms at the elbow”). This group includes:
- 6.0% of respondents in their first eight years of progression
- 14.0% of those 9-15 years progressed
- 16.0% of those 16-29 years progressed
- 8.5% of those with a disease duration over thirty years
Registry members dentifying with this stage in their upper body disease progression tend to assess themselves as more advanced in terms of lower body disease progression – however, as is the trend of this section, it’s impossible to make any broad statements, and there are exceptions to every trend in this data. Of survey participants whose highest ability is to raise both arms to shoulder height, 14.6% walk either unsupported or with unilateral supports; 24.6% use primarily bilateral supports, sometimes supplemented with wheelchair use; and a combined 60.8% navigate the world primarily with a wheelchair.
Bringing a Plastic Cup to the Mouth
People in this category rate their highest ability (out of the listed survey options) as bringing a full plastic cup to their mouth. This means the above survey options (touching the hands above the head, with or without bent elbows; bringing the arms to shoulder level) do not describe them.
Like the preceding stages defined by the Survey, it was comparatively rare for individuals in the first eight years of their disease duration to identify with this category. Those who did select this option included:
- A rare few survey participants with under eight years of progression
- 14.7% of those 9-15 years progressed
- 22.5% of those 16-29 years progressed
- 32.1% of those over thirty years progressed
People identifying with this stage of upper body disease progression tend to assess themselves as further progressed in their lower body, too – however, it’s impossible to make any broad statements about the overall disease progression of the registry members who identify with any one category. There exist exceptions to every trend in this data. This being said, of survey participants whose highest ability is to raise a plastic cup to their mouth, only 6.5% walk either unsupported or with unilateral supports; 15.9% use primarily bilateral supports, sometimes supplemented with wheelchair use; and a combined 77.6% navigate the world primarily with a wheelchair.
Of survey participants in this group who discussed new symptoms, many talked about a loss of grip strength and struggling to hold objects. They mention new compensations in the upper body like using a second arm to support their first arm or new ways to open lids; they also discuss how devices like electric toothbrushes or specially designed keyboards help them retain independence.
Free responses highlight how some in this stage deal with growing weakness in trunk muscles, resulting in loss of posture and corresponding pain.
Bringing a Hand to the Mouth
People in this category rate their highest ability (out of the listed survey options) as bringing a hand to their mouth. This means the above survey options (touching the hands above the head, with or without bent elbows; bringing the arms to shoulder level; and bringing a full cup to the mouth) do not describe them.
Very few people selected this stage, so across all disease duration groups it was a relatively rare category.
- Among all participants in their first fifteen years of disease duration, only 1.9% indicated they can raise a hand to their mouth, but not a cup with water
- 5.2% of those 16-29 years progressed
- 7.5% of those over thirty years progressed
Because this is a group with little representation in the Registry, it’s once again difficult to draw real meaning from the numbers involved. Of the few survey participants who selected with option to describe themselves, 12.5% primarily use bilateral supports, potentially supplemented by wheelchair usage. The remainder of this group primarily get around using a wheelchair, including 37.5% who tend to use a wheelchair when leaving the house, 4.2% who use a wheelchair all the time and can perform a standing transfer, and 45.8% use a wheelchair all the time and cannot perform a standing transfer.
Using the Hands to Interact
People in this category rate their highest ability (out of the listed survey options) as using their hands to hold a pen, pick up a coin, or drive a motorized chair. This means the above survey options (touching the hands above the head, with or without bent elbows; bringing the arms to shoulder level; and bringing a hand to their mouth) do not describe them.
As disease duration lengthens, the odds of a registry member identified with this category grows.
- Just 2.8% of respondents in their first fifteen years since first muscle weakness selected this option
- 13.4% of those 16-29 years progressed
- 32.1% of those over thirty years progressed
Among registry members who responded to the Annual Survey, most who selected this upper body category also identified with more progressed lower body descriptors. A combined 8.4% of people who fell into this category primarily use bilateral supports, potentially with supplemental wheelchair use; 15.5% use a wheelchair whenever they leave the house; 15.5% use a wheelchair all the time and can perform a standing transfer; and 60.6% use a wheelchair all the time and cannot perform a standing transfer.
People who selected this option were more likely than any other upper body category to mention their hands when discussing new symptoms. They talk about pain in the wrists, difficulty moving the fingers, loss in grip strength, and continually working to develop new compensations to allow for tasks like writing and driving their wheelchairs. Several participants in this category described loss of independence in daily hygiene rituals, and rely on help to wash their face or hair; others may be either developing new compensations to handle the task of bringing food to their mouth, or getting help for these tasks.
None of the Above
People in this category do not self-report they can accomplish any of the upper body motions described in the sections above. However, owing to the wording of this first iteration of the Annual Survey, we believe some people who selected this option may have understood another meaning to the answer; as a result, numerical statistics will be omitted from this section.
This furthest advanced option did not follow the pattern of being most common among those longer into their disease duration, though this is most likely due to a combination of unclear wording in the Survey itself and possible random skew. The same diversity is present in corresponding lower body progression metrics, though the majority of people who chose this category to describe themselves were also people who selected the most progressed lower body category captured by the Survey (full-time wheelchair use without the ability to perform a standing transfer).
While in general we say that people with dysferlinopathy will first experience progression in the lower body, then the upper body, it’s important to remember how such generalizations will never encompass everyone – and indeed, that many individuals will have experiences which fall outside of expectations for an artificially constructed norm.

Visual Summary of the Data

The above graphics distill the same disease duration statistics listed throughout this report into one image. Colors represent different stages of progression, and the height of each color block represents how many individuals from a certain disease duration range selected each stage.
You can “find yourself” in these visuals by reflecting on how many years it’s been since you first experienced symptoms, then looking up along the corresponding vertical to see the range of colors associated with other registry members who have been living with dysferlinopathy as long as you have.































