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Spasticity and Motor Challenges in LMBRD2: Understanding What Exists, and Not Facing It Alone
- 4 days ago
- 9 min read
Updated: 3 days ago
There is a reality that LMBRD2 families encounter early — sometimes from the very first months of a child's life. Muscles that resist. Limbs that stiffen. Hands and fingers curling under tension. And often, a question that remains without a clear answer: why is my child like this, and what exists to help?
This article does not claim to answer everything. The science on LMBRD2 is still in its earliest stages — only one peer-reviewed medical publication on this mutation exists to date (Malhotra, Ziegler et al., Journal of Medical Genetics, 2021). What is known with certainty about the precise biological mechanisms behind motor symptoms in LMBRD2 remains limited. We will never say this enough.
What we can do, as a family association, is name what families are living through, explain what medicine understands about spasticity in general, and share what approaches and professionals exist. We are not physicians and we prescribe nothing. Only your child's medical team can define and validate the appropriate clinical path.
But this inventory exists so that you can have informed conversations with your doctors and know that a landscape of knowledge and practice exists, even when LMBRD2-specific data does not yet.
🏃 Understanding: What Is Happening in the Body
Spasticity: What It Actually Means
Spasticity is an abnormal resistance of a muscle to being stretched. The muscle does not relax as it should — it remains in a state of tension, sometimes constant, sometimes triggered by movement. For a child, this translates into stiff limbs, restricted movement, a posture that becomes increasingly rigid, and greater fatigue to accomplish simple everyday actions.
Clinicians who follow children with LMBRD2 use this term. That is an important anchor point: even though the precise mechanism by which the LMBRD2 mutation produces these manifestations is not yet understood, physicians recognize and name spasticity in these children. It is not a parental impression. It is a clinical observation.
Spasticity Is Not the Only Motor Challenge
In many children with LMBRD2, spasticity coexists with other motor manifestations:
Hypotonia: Insufficient muscle tone, often present in early infancy, giving an impression of floppiness or lack of postural hold in the trunk. Paradoxically, core hypotonia and peripheral spasticity can coexist in the same child.
Gait disorders: Walking on tiptoe, scissor gait, severe instability. Some children with LMBRD2 do not achieve independent walking.
Upper limb involvement: Hands and fingers in tension, curled, difficult to open. This is a reality for several children in our community, with a direct impact on grasping, communication, and daily activities.
Contractures: Over time, when muscles remain contracted without being regularly worked, tendons and joints progressively lose their range of motion. Hips, knees, ankles, and wrists can become increasingly rigid.
Pain: Often silent, often poorly identified in children who do not communicate verbally. Contractures hurt. Stiffness hurts. This dimension is too often overlooked.
Variability from One Child to Another
Not all children with LMBRD2 are affected in the same way. Some walk. Others do not. Some have involvement primarily in the lower limbs. Others also have affected hands and arms.
There are not yet enough documented cases to identify reliable correlations between a specific mutation variant and a specific motor profile. Each child has their own clinical picture, and care must be tailored accordingly by their medical team.
🏥 The Professionals and Approaches That Exist
The Care Landscape
Motor challenges in LMBRD2 — like those in other neurodevelopmental conditions — are typically addressed by a team of specialists working together. Knowing who these professionals are helps families understand who to bring their questions to.
The Neuropediatrician The neuropediatrician is typically the central physician in an LMBRD2 child's medical journey. They oversee the neurological development, manage epilepsy when present, and coordinate referrals to the broader specialist team. They are often the first point of contact when new motor symptoms emerge or when the clinical picture evolves.
The Rehabilitation Medicine Specialist (Physiatrist / Médecin MPR): This specialist focuses entirely on the assessment and coordination of motor care — evaluating spasticity, posture, and mobility, and bringing interventions into a coherent plan. Where the neuropediatrician focuses on the brain, epilepsy, and neurological development, the rehabilitation specialist focuses on what the body can do and how to preserve function over time.
The Physiotherapist (Physical Therapist): Works directly on movement: stretching, joint mobilization, muscle strengthening, postural control, and gait. For many children with LMBRD2, physiotherapy is a long-term presence.
The Occupational Therapist (OT): Focuses on function in daily life (grasping, self-care, play) and on adaptations. They play a central role for children with hand involvement and help select vital daily equipment (adapted seating, bath chairs).
The Orthotist: Designs and fits the custom orthoses prescribed by specialists to support positioning and prevent contractures.
The Surgeons (Orthopedic or Neurosurgeon): Involved by the medical team for long-term structural monitoring or to discuss specific surgical interventions for severe spasticity.
🛠️ Therapeutic Approaches: What Exists and What It Can Offer
The approaches described below are used and documented in neurodevelopmental conditions with spasticity — notably cerebral palsy, which presents several clinical similarities with LMBRD2. They are not specifically validated for LMBRD2, and any consideration of these tools must be evaluated solely by your medical team.
1. Physiotherapy — The Foundation
Physiotherapy is the cornerstone of motor management, and no other intervention replaces it. The core work includes regular muscle stretching to prevent shortening, joint mobilization, and strengthening opposing muscles.
Depending on the child's needs, therapists may use specific frameworks, such as the Bobath concept (facilitating functional movement patterns) or CME / Cuevas Medek Exercise (provoking automatic balance reactions against gravity). Conductive Education (Pétö Method) is another approach used in some neurodevelopmental conditions, primarily with children who have functional walking potential — its relevance varies significantly depending on the child's motor profile.
The continuity of physiotherapy matters. For some LMBRD2 children, interruptions — however brief — lead to measurable regression. This is not universal across all profiles, but where this pattern is present, its consequences are real. The appropriate rhythm of sessions is something each medical team assesses individually with the family.
2. Botulinum Toxin Injections
The indication for this treatment depends exclusively on a comprehensive medical evaluation by an expert team in pediatric motor disorders. Only a qualified specialist can determine its appropriateness, dosage, and protocol following a rigorous clinical examination.
Botulinum toxin type A is a widely used focal treatment. Injected directly into the targeted spastic muscles by the physician, it temporarily reduces their overactivity by blocking the nerve signals that trigger excessive contraction. This effect typically lasts between three to six months, after which the nerve gradually regenerates.
Its key characteristic is precision: it acts locally where it is injected, avoiding the systemic side effects (like drowsiness) associated with oral medications. This makes it relevant when spasticity is concentrated within specific groups — like the calf muscles causing tip-toe walking, the hip adducters causing a scissors gait, or the wrist and finger flexors.
The injection effectively creates a "therapeutic window" — a temporary period of reduced muscle tone during which physiotherapy can be deployed much more effectively, as muscles and joints are significantly more receptive to stretching and functional training. In clinical practice, these injections are systematically paired with an intensive rehabilitation protocol.
3. Orthoses
Orthoses serve both a preventive and a functional role. Beyond supporting movement during the day (like Ankle-Foot Orthoses / AFOs), they maintain muscles and joints in correct positions when therapy is not present — overnight in particular. Night splints provide a prolonged, gentle stretch that complements what physiotherapy achieves during sessions: hours of passive positioning that help counteract the tendency of spastic muscles to shorten over time. For children with hand involvement, resting hand splints help manage resting tension and preserve hand opening.
4. Hydrotherapy / Aquatic Therapy
Water provides a therapeutic medium with physical properties that are uniquely beneficial. Buoyancy reduces the gravitational load on joints, allowing movement that may be difficult or painful on dry land. The warmth of therapeutic pools (typically 33 to 35°C) promotes muscle relaxation and reduces tone.
In practice, aquatic therapy allows children to move more freely, explore balance without the risk of falling, and work on strength in a low-impact environment. Frameworks like the Halliwick method are often used. Beyond the physical benefits, water therapy is often experienced very positively by children, which is not a secondary consideration when therapy needs to span years.
5. Hippotherapy (Therapeutic Horseback Riding)
Several LMBRD2 families use hippotherapy. The rationale is grounded in biomechanics and neuroscience. The horse's walking gait generates a rhythmic, three-dimensional movement that closely resembles the movement patterns of human walking. For a child seated on a horse's back, this movement is transmitted continuously through the pelvis and spine, engaging deep postural muscles and balance reactions in ways that are difficult to reproduce in a clinic.
This stimulation activates core muscles, stimulates proprioception, and can contribute to a reduction in tone through rhythmic input and the horse's body heat. For children who find conventional clinical settings difficult, the horse often provides a highly motivating context. This takes place in certified centers with specialized therapists and strict safety protocols.
6. Central Nervous System Systemic Options
For severe and diffuse spasticity that does not respond adequately to focal approaches, medical teams may evaluate oral medications such as oral baclofen, which acts on the central nervous system to reduce the excitability driving excessive muscle contraction. Its potential benefits, side effects — including sedation and effects on seizure threshold — and appropriateness for a given child are questions for the medical team, who will evaluate the individual profile, including epilepsy history, before any consideration of this approach.
💙 A Note on Managing the Caregiver Journey
Looking at this inventory can feel overwhelming. Managing multiple weekly appointments (PT, OT, medical check-ups, orthotic fittings) represents a massive cognitive and physical load for families.
Please remember: you cannot do everything at once, and you do not have to. Protecting your family’s balance, your child's playtime, and your own mental health is just as vital as any therapy. Work closely with your lead medical specialist to prioritize interventions based on what matters most for your child's comfort and autonomy right now.
💙 Spasticity in LMBRD2. Not Facing It Alone: What the Community Knows
Here is an uncomfortable truth: science does not yet have LMBRD2-specific answers for motor management. But families do. They know what helps their child. They know what does not work. They know which physiotherapist made a real difference, which rehabilitation specialist actually understood what LMBRD2 is, which approach helped preserve walking or maintain hand function.
This collective knowledge is real and valuable. It exists nowhere in writing. And every new family receiving a diagnosis starts from zero — without a map, without reference points, without the ability to build on what those who came before them discovered.
This is what the association wants to change.
If you are an LMBRD2 family — whatever your child's profile, whatever approaches you have tried — your experience matters. Share it with us. What has helped? What has not? What professionals have truly understood your child's situation? Your observations, even informal ones, help build collectively what medicine cannot yet give us.
We are not physicians. We prescribe nothing. But we can be the place where family experience becomes a resource for every family that comes after.
🚀 Our Vision: The CLIMB-LMBRD2 Project
To move beyond informal observations and build the scientific data our children desperately need, our association has designed a major research initiative: the CLIMB-LMBRD2 project (Characterizing Longitudinal gait Impairments induced by LMBRD2 Mutations using Bioconnected sensors).
Today, we know that every child with LMBRD2 evolves differently, but medicine cannot yet predict how quickly spasticity or walking difficulties will progress. Without knowing this "natural history" of the disease, testing future medications becomes impossible. How can we tell if a future treatment works if we don't know how the disease would have evolved without it?
Our Goal: Medical-Grade Wearable Technology Our ambition is to utilize Syde®, a revolutionary, regulatory-qualified wearable sensor platform developed by SYSNAV for rare disease clinical trials. This technology uses the first digital endpoint qualified by the European Medicines Agency (EMA) to measure treatment efficacy through daily life mobility, rather than artificial laboratory snapshots.
Our project aims to equip some children with these small, passive sensors (worn at the ankle and wrist) to track their real-world mobility over 24 months. This would allow us to:
Map the natural progression of mobility and find early warning signs before major deterioration.
Establish a baseline reference for all LMBRD2 patients worldwide.
Ensure that the day a therapy (like gene therapy) is ready, our community already has the validated, regulatory-grade tools required to test it.
Why We Need Your Support Today This is a project driven entirely by our patient association through project calls. We recently submitted this project to a highly competitive grant call, and although it was not selected this time, we refuse to give up.
To turn this project into reality, buy the sensor infrastructure, and launch the study, we need a budget of approximately €10,000. This research will not happen without private donations and community mobilization. By supporting us, you are helping us build the scientific roadmap for the global LMBRD2 community.
MORE ABOUT : CLIMB-LMBRD2 PROJECT
💙 What to Remember
Spasticity is clinically recognized in LMBRD2 children, and often accompanied by other motor challenges
Each child has their own profile. Variability across the LMBRD2 community is significant.
A landscape of professionals and therapeutic approaches exists. None of these is LMBRD2-specific, but all are documented in comparable conditions.
The medical team overseeing your child is the sole authority authorized to define, validate, and prescribe these interventions. Knowing what exists simply allows families to bring informed questions to the table.
The LMBRD2 community holds knowledge that science has not yet documented. That knowledge deserves to be shared.
🤝 How to Support Our Work
Families living with LMBRD2 face immense challenges, often without adequate resources or clear medical answers. Our association needs your support to continue helping these families, funding research, and creating information and support tools. Every donation, however small, makes a difference.
Contact us at contact@lmbrd2.org or on our private channels (FB/Discord) to share your experience or to support our association.
1- French online donation platform
2- Global flexible donation platform
Thanks in advance!
Primary sources: Malhotra A, Ziegler A et al., "De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features", J Med Genet, 2021. Literature on spasticity management in neurodevelopmental conditions: Frontiers in Pharmacology (2016), Cochrane Review — botulinum toxin in cerebral palsy (2019), Frontiers in Neurology (2026), Springer Nature — Hippotherapy in Cerebral Palsy (2018), PMC — Effectiveness of Hippotherapy, systematic review (2020), Physiopedia — Hydrotherapy and Hippotherapy for Children with Cerebral Palsy.
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