# Symptoms and stages of facioscapulohumeral dystrophy
Facioscapulohumeral dystrophy (FSHD) is a progressive muscle disease that does not develop in sharply defined stages, but rather as a gradually progressing process. Symptoms typically appear first in the facial and shoulder muscles, and expand over the years to other muscle groups. Because the course varies greatly from person to person, it is useful to divide the disease into three broad stages that occur more or less commonly, without this following the same pattern for every patient.
Early-stage FSHD (early symptoms)
In this stage, symptoms become noticeably apparent for the first time, usually in adolescence or (young) adulthood, sometimes later.
**Which complaints occur:**
- **Facial muscles:** weakness when closing the eyes, so the eyes cannot close completely (incomplete ocular closure). This may become particularly noticeable at night (eyes remain slightly open). The corners of the mouth may not rise as well when smiling.
- **Shoulder and shoulder blade muscles:** the shoulder blades protrude more and shift further outward when arms are raised. This is called 'winging'. This often causes asymmetry — sometimes one shoulder is more affected than the other. People may feel less strong when lifting or reaching, or notice difficulty with arms above shoulder height.
- **Upper arm muscles:** mild to moderate weakness, especially noticeable during exercises where arms move against resistance.
- **Abdominal muscles:** some people notice swelling of the abdominal muscles or unusual tension, especially during exertion (this may be part of the so-called 'Beevor's sign', where certain muscles become asymmetrically prominent).
- **General fatigue:** patients may report tiredness or limited exercise tolerance without this always being equally clearly measurable.
**What this means in daily life:**
Many people notice in this stage that certain daily tasks become more difficult: combing hair, pulling things from a cabinet, reaching upward for long periods. Climbing or lifting requires more effort. Sports and hobbies that require shoulder strength (swimming, tennis) may become more limited. Facial weakness can feel socially sensitive for some, especially the inability to smile fully or keep eyes closed.
**Figures about this phase: **
Early symptoms can occur in youth, but the time they become noticeable varies greatly. Most diagnostic data suggest that in the first years after symptom onset, weakness is present gradually, without specific survival figures being relevant for this stage — this is a stage of progression, not of life-threatening disease. However, individual progression speed is highly variable: some people have decades of stable or very slow progression, others see faster changes. This depends on genetic and not yet fully understood individual factors.
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Intermediate-stage FSHD (advanced weakness)
After several years to decades, the disease becomes more noticeable. The weakness expands to more muscle groups and further limits activities.
**Which complaints occur:**
- **Shoulder muscles:** considerable to severe weakness, making raising arms substantially difficult or impossible. Many everyday arm activities require modifications.
- **Trunk musculature:** weakening of other trunk muscles (abdominal, back) can cause posture problems, especially during prolonged sitting or standing. The back of the neck and neck area may also be involved.
- **Forearms and wrists:** gradual weakness, noticeable in gripping, writing, and fine motor control.
- **Legs:** somewhat later, but in this stage early signs of weakness in the thighs may occur. This manifests in difficulty climbing stairs, rising from a sitting position, or long walks.
- **Face:** the symptoms from the early phase worsen; less control over facial expression, more difficulty with chewing or swallowing (in some).
- **Fatigue:** becomes a prominent symptom for many people; it can be more than just physical tiredness.
**What this means in daily life:**
In this phase, many people need clear limitations. Heavy household tasks (cleaning, cooking with heavy pots) become more difficult. Work that requires physical effort can become unfeasible. Participation in sports and leisure activities decreases. Some people feel the need for an adapted workplace (ergonomics, task adjustments) or workplace changes. Driving usually remains possible, but depends on individual arm function. Psychosocial consequences increase: adjustments to identity and role definition in family and work require attention.
**Figures about this phase: **
For this intermediate phase, no specific survival figures are relevant — FSHD with this degree of involvement is not directly life-threatening. The rate of progression varies: some people stabilize in this phase and experience little further change over years. Others gradually move to the next phase. Studies on natural history suggest that those who develop symptoms in adolescence more often see progression in adulthood than those with later onset age, but this is highly individual.
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Advanced-stage FSHD (severe functional limitations)
This stage is reached after many muscle groups have been affected. For many patients, this occurs only in later life, but it can also come more quickly.
**Which complaints occur:**
- **Arm function:** severe to complete loss of arm strength. People cannot raise their arms against gravity. Even tasks such as eating, drinking or facial care can become problematic without adaptations.
- **Leg function:** considerable weakness in hips and upper thighs. Many people have difficulty standing, walking or climbing stairs; some need support in this phase (walking stick, walker) or cannot walk without help.
- **Trunk:** reduced balance and postural control; this increases fall risk.
- **Neck and neck muscles:** in some, progressive weakness that can affect head control.
- **Breathing muscles:** in rare, severe cases, weakness of the breathing muscles (intercostal muscles, diaphragm) can occur, especially during exertion.
- **Swallowing:** risk of swallowing difficulties (dysphagia) is present in approximately 25–30% of patients in advanced stages; this increases the risk of aspiration.
**What this means in daily life:**
Most basic care activities (ADL: eating, washing, dressing, toileting) require significant assistance or adaptations. Independent mobility becomes severely limited; many people need aids (crutches, walker, wheelchair) or care. Work is usually no longer feasible. Housing may need to be adapted (no stairs, adapted bathroom). Social participation decreases, partly due to physical limitations, partly due to reduced energy. For many people, psychosocial burden plays a role: adjustments to growing dependence, changes in self-esteem, and possible depression or anxiety require attention and support.
**Figures about this phase: **
For this phase, survival rates are not simply applicable. FSHD leads to shortened life expectancy only in exceptional cases — for example, when severe respiratory weakness occurs or when complications such as serious swallowing difficulties develop — only then directly. Studies show that life expectancy for many FSHD patients is close to normal, even in advanced phases, although quality of life may vary. A Dutch registry or large international cohorts indicate that many adults with FSHD reach their normal life expectancy, but individual outcomes vary greatly depending on factors such as severity of muscle disease, subsequent complications, and available support. Research suggests that rapid progression and very early onset (before age 10) are associated with greater risk of more extensive involvement in adulthood, but this does not predict the individual future.
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Variability between patients
The above provides a general pattern, but FSHD is a disease with **great variability**. Some patients have decades with very mild symptoms and limit themselves mainly to the face and shoulders. Others have faster progression to more widespread body involvement. Some develop complications (such as scapular instability, for which surgical intervention may be considered), others do not. A small number have more severe progression with involvement of breathing or swallowing at an earlier stage.
This variability depends on genetic factors (including the size and specific characteristics of the genetic change, and possible modifiers from other genes such as MYH2) and possibly still unknown environmental or biological factors. This makes prediction for one person difficult, despite population figures being available.
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When to contact the healthcare provider
Because FSHD progresses gradually and there are no acute life-threatening moments, regular contact with the treating physician (and neuromuscular specialist) is more important than sudden alarm signals. However, contact can be worthwhile when:
- **Food or swallowing problems develop:** these may warrant further investigation and speech therapy guidance.
- **Breathing difficulties** (shortness of breath also at rest or at night) become noticeable.
- **Pain** in shoulders or back develops or worsens — adjustments or physical therapy can help.
- **Falls or balance problems** increase — safety advice and aids may be needed.
- **Psychological burden** increases (depression, anxiety) — attention to this is part of good care.
- **Support or aids** turn out to be needed — early contact ensures good planning.
Regular monitoring by the neuromuscular disorders department remains important, even if progression is slow. Monitoring helps detect complications early and set support appropriately.
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_This information never replaces a doctor's judgment. Always discuss your situation with your own healthcare provider._