PPMD encourages all carriers to consider joining The Duchenne Registry. The data you share will help us advance research by providing a better understanding of the impact of being a carrier and the significance of different types of genetic changes.

A manifesting carrier is a female who exhibits all or some of the same symptoms as a male with Duchenne. While there are tests to see if a female is a carrier of a Duchenne mutation, there are no tests that can show if a female will be a manifesting carrier. All females carriers should have their skeletal muscles monitored for strength, function, pain, and endurance and their hearts checked regularly by healthcare providers who are familiar with Duchenne.

The glossy metallic red won’t be everyone’s choice–however the Superior Bikes XP 919 is also available in black. The frame has internal routing although the plug in the frame doesn’t look like it can support an internal dropper post if that was something you wanted to look at. The frame has modern boost axle spacing, and without a chain or seat stay bridge there is plenty of room for wider tyres and mud. There’s a press fit bottom bracket shell, tapered head tube and room for two bottles in the frame’s main triangle.

The first descents I tackled were fairly flowing with some loose over hardpack and very minor features. The XP 919 responded really well to input to pre jump some bigger lips I had no interest in hitting while high-posting, and unweighting over the more pronounced edges that tubed tyres do not get along with well. With as lightly shorter reach than some large sized frames and therefore a slightly longer stem, it is easy to move the bike around at lower to middling trail speeds. At higher speeds on narrow trails a little more attention was needed when coming around corners blind–but the flip side of that is how responsive the bike is to changing lines.

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Genetic testing can determine whether a woman is definitely a carrier or whether she is very unlikely to be a carrier. Genetic testing is the best method for performing accurate carrier testing.

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Carrier females have an increased chance of changes to heart function. It is not yet known how common heart changes are, but some studies have estimated that 10-50% of carriers have heart changes. The large majority of carriers will never need heart treatment or have health effects. However, because a small percentage of carriers may have serious heart concerns, it is important for all women who are carriers and women who are at risk to be carriers (but have not had genetic testing yet) to have regular heart evaluations, beginning in their late teens to early adult years.

Where the Superior Bikes XP 919 really shines is in the flowing hardpack trails and multi-use trails. It was fast, with a shifting and braking setup that didn’t miss a beat. The RockShox Judy fork has enough options for adjustment with an air-spring, rebound and lock out to suit riders looking at this type of bike–but the bike nor the fork are the right mix for someone who wants a trail hardtail. BikesOnline can serve that market with something like the Marin San Quentin 2 ($1999) which has 27.5 x 2.6” tyres, a burlier fork and slack geometry.

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There are many different reproductive options for carrier families with a higher chance of having a child with Duchenne. Learn more about reproductive options for carriers.

Carriers also have an increased chance of heart problems and, sometimes, skeletal muscle weakness. If a woman knows she is a carrier, she should be evaluated regularly by a doctor who is familiar with Duchenne. Regular cardiology appointments are necessary, and referrals to other specialists may be needed. Learn more about Carrier Symptoms and Care.

My large test bike has a 69 degree head angle and 74 degree seat angle. This is more modern than my last hardtail and not that far off my current one–although the reach is moderate at 455mm. This does suit a$2000 cross-country hardtail quite well, but more on that later.

Finally, genetic carrier testing is important because once one carrier is identified in a family, there could be several more carriers identified in the extended family. It is important to share this information with other females in the family so they can pursue carrier testing if desired. Learn more about carrier testing.

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Either way, the data you share will help us advance research by providing a better understanding of the impact of being a carrier and the significance of different types of genetic changes.

As an alloy hardtail with 2.25” tubed tyres, I did approach the first trails I rode with some trepidation. The balance on the bike was really good though, especially on hard packed rolling flow trails. The Racing Ralph tyres delivered better traction than I expected, and the air-sprung Judy fork helps keep the front wheel tracking. Being accurate with tyre and suspension pressure is key to getting the most out of these components–so invest in a good shock pump and maybe a digital tyre pressure gauge as well.

In order to understand how some females manifest symptoms of Duchenne while others do not, it is helpful to understand some basic biology. Males are born with one X chromosome (from their mother) and one Y chromosome (from their father). Because males only have one X chromosome, if the X chromosome they receive has a Duchenne gene mutation, they will be affected with Duchenne.

It is important to remember that Duchenne is not always inherited from a carrier mother. Approximately 70% (2 out of 3) of children born with Duchenne have inherited the genetic mutation from their mother who is a carrier. However, approximately 30% (1 out of 3) of children born with Duchenne have a genetic change that started new in them and was not inherited from their mother. This is called a “spontaneous mutation” or a “de novo” mutation. The mother of a child with a spontaneous mutation is not a carrier.

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In the past, there has not been a great deal of research focused on female carriers, but this is changing. While The Duchenne Registry has always collected data on female carriers, the 15 Year Registry Report includes insights on this population for the first time. Download the report to learn more.

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If a woman has a child with Duchenne and she has genetic carrier testing performed and it is negative, you might think that she is not at risk to have another affected child since her carrier testing was negative. But several studies have reported women having a second affected child even after negative carrier testing. This is due to “germline mosaicism”, which mean that some of her egg cells (her “germline”) carry the Duchenne gene mutation whereas other egg cells do not. However, she does not carry the Duchenne gene mutation in her blood cells, which is why her genetic testing was negative.

Superior Bikes come out of the mountains in the Czech Republic, and they are now available in Australia via BikesOnline. With over 30 years making bikes, Superior have had a recent push into the elite cross-country market, but not without ensuring that a strong foundation remains in a hardtail line up. Superior Bikes have a range of carbon and alloy hardtails, starting at $1999 with the Superior Bikes XP 919 and offering just about everything you would expect. This includes 29” wheels, boost through axles, wide range 12-speed gearing and great ergonomics. The Superior XP range clearly has a cross-country intent, and is therefore built around 100mm travel forks and moderate geometry.

Photographer: Gerard LaganaTester: Mike BlewittRiding Experience: Hardtail aficionadoGenerally Rides: Norco Revolver 120 HT, Factor Lando XCHeight: 178cmWeight: 72kgBike Test Track: Greater Brisbane

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Germline mosaicism is not believed to be very common, although it is almost impossible to determine how many women are germline mosaics. The majority of carriers of the Duchenne mutation are somatic carriers, meaning they carry the Duchenne gene mutation in every cell of their body. Learn more about germline mosaic carriers.

Most carrier females (about 80-90%) have no problems with their skeletal muscles. Some have mild muscle weakness, fatigue (a tired feeling), or cramping in their muscles. Rarely, a carrier has symptoms that are as severe as those of a male with muscular dystrophy.

A carrier is a person who “carries” a genetic mutation in any of their genes that could be passed on to their children. Because the mutation for Duchenne is found on the X chromosome, only females can be carriers for the mutation on the gene that encodes for dystrophin protein. Carriers have an increased chance of having sons with Duchenne and daughters who are carriers.

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Each time a carrier mother has a son, there is a 50% chance (or 1 out of 2) that he will be affected with Duchenne, and each time a carrier mother has a daughter, there is a 50% chance (or 1 out of 2) that she will be a carrier. Carriers have no control over which copy of their X chromosome they pass on to their children.

The XP 919 is for riders who want to get out and ride. Be that exploring rail trails, quick rides to the local trail network, mixed-terrain commutes or even bike packing. Although the frame doesn’t have mounts for racks, the overall design could take some specific luggage really well, and the quality group set will go the distance.

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At $1999 the Superior XP 919 sits in a very competitive part of the market. For riders looking for a fun bike to get out onto the trails it’s a great place to start. But for more off-road performance I’d suggest investing in tubeless tyres, valves and sealant–plus a shock pump–to truly take advantage of the bikes handling and characteristics.

If you have a child with Duchenne and they already have a registry account, you can add yourself to their account in the Family Member box and you both would share the same username and password. Carriers can also register themselves separately by creating a new account with a unique username and password.

RRP: $1999 Weight: 12.74kg (as tested) From: bikesonline.com.au Available: Sizes S, M, L (tested), XL Fork: RockShox Judy Silver TK R, 100mm Shifter: Shimano Deore M6100, 12sp Derailleur: ShimanoSLX M7100, 12sp Crank: Shimano FC MT510, 34t, 175mm Bottom bracket: Shimano MT500 BB92 Chain Shimano: Deore M6100, 12sp Cassette: Shimano Deore M6100, 12sp, 10-51 Hubs: Shimano TC500 centrelock Spokes: Black, stainless Rims: Stars J25D, 25mm internal, 32h Tyres: Schwalbe Racing Ralph 29×2.25” Brakes: Shimano MT410, 180/160mm Stem: ONE Race Handlebars: ONE Race, 5mm rise, 760mm Seatpost: ONE Race alloy, 27.2mm Saddle: Fizik Terra Aidon X5

PPMD encourages all carriers to consider joining The Duchenne Registry. The data you share will help us advance research by providing a better understanding of the impact of being a carrier and the significance of different types of genetic changes.

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Being a carrier of Duchenne can affect so many aspects of a woman’s life, including health care, family planning, and mental health. As part of our efforts to better understand and support carrier issues, this comprehensive guide addresses the questions most often asked by carriers. It was developed in collaboration with carriers and with expert providers from neurology, genetics, cardiology, and psychology.

I’ve got the XP 919 ($1999) on test, which is an alloy frame with a Shimano 12-speed group set and brakes, RockShox 100mm fork and a smart cockpit arrangement. Coming in at about $2000, the XP 919 sits at a very competitive part of the market. It goes up against the Marin Team 1 from BikesOnline and the Merida Big.Nine SLX. When we reviewed 8 hardtails under $2000 last year, we had one guiding question; is it fun to ride?

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The Superior Bikes XP 919 arrived via courier at my front gate, or actually in my carport. The courier went straight past the warning sign about a dog being on the property but he got away with it. Like any bike from BikesOnline, the bike you buy will get delivered to your door. This means you need to navigate choosing the model that suits you, sizing, and then building the bike. BikesOnline have a number of online tools to help with all of this, and a robust customer service team you can call as well. There’s even a free returns policy that lasts 30 days–head to their website for the full details.

Carriers have an increased chance of having children with Duchenne or Becker, so if a woman knows she is a carrier, she can make more informed childbearing plans. There are many reproductive options available to carriers. Learn more about reproductive options for carriers.

In the past, there has not been a great deal of research focused on female carriers, but this is changing. The Duchenne Registry, started by PPMD in 2007, has always collected data on female carriers. In fact, we encourage all carriers to consider joining The Duchenne Registry.

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The bike was a cinch to build, and you will only need to navigate fitting the handlebars onto the stem, putting the seat post in the frame and putting the front wheel in. Then you need to setup the cockpit for brake and shifter position, and bar roll, plus set the tyre and suspension pressure–and of course the seat height. I prefer to ride tubeless tyres however the Schwalbe 2.25” Racing Ralph tyres are a basic model that will not support tubeless, however the rim tap fitted may stay airtight if you buy some valves and upgrade the tyres. I fitted my own pedals (platform pedals are included) and put a bottle cage on, and finalised my setup for fit.

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Carriers can have some symptoms of Duchenne, such as muscle weakness and heart problems. Though it is rare, some females can have the classic symptoms of Duchenne, and they are known as manifesting carriers. All carriers should be evaluated by a healthcare provider familiar with Duchenne.

Zipping up a twisty singletrack climb was a fresh reminder that longer, lower, slacker is not everything. The XP 919 easily navigated the twisty trails with a comfortable pedalling position that kept the front wheel tracking around corners, with no extra muscle needed to bring the front wheel around. With a remote lock out on the handlebars, it was easy to lock the fork for a very smooth fire trail climb or road section as well.

If you are interested in learning about clinical trials focused on carriers, please visit our Explore Clinical Trials section and select “Studies for Female Carriers.”

This illustration shows how the mutation that causes an X-linked disorder can pass from a carrier woman to her children. As you can see, a carrier mother may or may not pass on the gene with the mutation—there is an equal chance each way.

With wide 760mm flat bars and a comfortable Fizik seat, the XP 919 was a pleasure to pedal away on. Equipped with a 34t replaceable chain ring and a Shimano Deore 12-speed group set, the gear options were plentiful with a full 10-51t range. Shimano’s long lever blades on the installed model mean you may need to move the brake levers inboard to get the best setup, but I found the bar shape, stem reach and lock on grips all a good fit–the ergonomics are really good.

Females are born with two X chromosomes (one from their mother and one from their father). If a female has one X chromosome that has a Duchenne gene mutation, most cells in the body will generally “inactivate” that X chromosome with the mutation. The female will be a carrier of Duchenne but usually she herself will have few, if any, symptoms of Duchenne. However, if most cells in the body choose to inactivate the normal X chromosome instead of the X chromosome with the Duchenne mutation, the female will be a Duchenne carrier and will likely exhibit, or “manifest,” symptoms of Duchenne. This is called “skewed X inactivation” and this is likely the reason why some females are manifesting carriers.

On rougher descents with small rock drops, bigger exposed roots and more rock, the XP 919 still holds its own. Without a dropper and with basic tyres you need to be mindful of line selection, and understand that a Judy fork won’t have the ongoing midstroke support and balance through extended rock sections that a top-spec fork will have. Overall though, I was still really impressed. A lot of this is down to the ergonomics of the cockpit. From saddle comfort to bar width, bar sweep and stem length, I was really comfortable with the fit and handling on the Superior Bikes XP 919. The bike offered no surprises and the overall performance is a good baseline to improve on with a few smart upgrades overtime.