Skip to content
Inciteful Med

Long-Term Monitoring: Protecting Your Whole Body

Last updated:

Facioscapulohumeral dystrophy (FSHD) is a multisystem condition requiring proactive long-term monitoring. Patients need routine pulmonary function tests to check breathing, as well as vision and hearing screenings, especially for early-onset cases, to catch and manage complications early.

Key Takeaways

  • • FSHD can affect breathing, vision, and hearing, making regular whole-body monitoring essential for long-term health.
  • • Annual pulmonary function tests are recommended to track respiratory strength, with BiPAP therapy available if nighttime breathing becomes shallow.
  • • Patients with early-onset FSHD or short D4Z4 repeats face a higher risk for systemic features and need regular eye and hearing exams.
  • • Routine heart screenings are not typically required for FSHD patients unless specific cardiac symptoms arise.
  • • Women with FSHD can have successful pregnancies with proactive respiratory monitoring and specialized obstetric planning.

While FSHD primarily affects the muscles, it is a “multisystem” condition, meaning it can sometimes involve your breathing, hearing, and vision. Because these changes often happen slowly and subtly, proactive long-term monitoring is the best way to protect your overall health and catch any issues early when they are easiest to manage [1][2].

Respiratory Health: Monitoring Your Breathing

Weakness in the diaphragm and the muscles of the chest wall can sometimes affect how well you breathe, especially during sleep [3][4].

  • Pulmonary Function Tests (PFTs): All patients should receive a baseline PFT at the time of diagnosis [5]. For most, an annual screening is recommended to track the Forced Vital Capacity (FVC)—the amount of air you can exhale after a deep breath [6].
  • Who is at Risk? Respiratory issues are more common in people who use a wheelchair for mobility, those with significant spinal curves (like scoliosis), or those with early-onset FSHD [7][8].
  • Supportive Care (BiPAP): If monitoring shows your breathing is shallow during sleep (nocturnal hypoventilation), a non-invasive ventilation machine called a BiPAP can be used at night to help your lungs rest and ensure you are getting enough oxygen [9].

Protecting Your Vision and Hearing

In some cases, the same genetic “malfunction” that affects the muscles can also affect the blood vessels in the eyes and the delicate nerves in the ears [10][2].

  • Who Needs Screening? Screening is most critical for those with early-onset FSHD or those with very short D4Z4 repeats (1–3 units), as they have the highest risk for these systemic features [10][11].
  • Vision (Retinal Health): A dilated eye exam is used to look for exudative retinopathy (sometimes called Coats’ disease), which involves abnormal blood vessels in the retina [1][12]. If caught early, this is often treatable and preventable [1].
  • Hearing (Audiometry): High-frequency sensorineural hearing loss can occur in nearly 40% of children with 1–3 repeats [13][10]. Regular hearing tests (audiometry) are essential, especially for children, to ensure hearing loss doesn’t interfere with language development [1].

Heart Health

Unlike some other forms of muscular dystrophy, FSHD rarely affects the heart muscle in a way that causes symptoms [1].

  • Routine Screening: Most experts agree that routine heart tests (like EKGs or echocardiograms) are not necessary for FSHD patients unless they are experiencing specific symptoms like heart palpitations or shortness of breath [1].

Pregnancy and FSHD

Many women with FSHD have successful pregnancies and healthy babies [14][15]. However, there are a few special considerations:

  • Symptom Changes: Pregnancy can sometimes cause a temporary increase in muscle weakness or fatigue as the body changes and the “load” on the muscles increases [16].
  • Anesthesia Planning: If you have respiratory weakness or spinal deformities like scoliosis, it is important to meet with an anesthesiologist early in your pregnancy to plan for a safe delivery [16][14].
  • Family Planning (PGT): For patients looking to start a family, working with a genetic counselor is vital. Preimplantation Genetic Testing (PGT) is an option available through In Vitro Fertilization (IVF) that allows parents to ensure their child does not inherit the FSHD genetic mutation [15].
  • Outcomes: While some women report a slight decline in strength following delivery, overall outcomes for both mother and baby are generally very favorable with proper planning and a high-risk obstetric team [14][15].

Frequently Asked Questions

How often do I need a breathing test with FSHD?
All patients should have a baseline pulmonary function test when diagnosed. For most people with FSHD, an annual breathing test is recommended to track lung capacity, especially if you use a wheelchair or have significant spinal curves.
Do I need to get my hearing and vision checked if I have FSHD?
Yes, especially if you have early-onset FSHD or short D4Z4 repeats (1-3 units). A dilated eye exam checks for abnormal blood vessels in the retina, and audiometry checks for high-frequency hearing loss. Early detection can prevent permanent damage.
Does FSHD affect the heart?
Unlike some other muscular dystrophies, FSHD rarely affects the heart muscle. Routine heart screening like EKGs or echocardiograms are generally not necessary unless you experience specific symptoms like heart palpitations or shortness of breath.
Can I have a healthy pregnancy with FSHD?
Yes, many women with FSHD have successful pregnancies and healthy babies. You may experience a temporary increase in muscle weakness, so it is important to plan ahead with a high-risk obstetric team for respiratory monitoring and safe anesthesia delivery.
What are the signs of breathing problems during sleep?
Warning signs of shallow breathing at night, known as nocturnal hypoventilation, include waking up with morning headaches, feeling unusually sleepy during the day, or finding it harder to breathe when lying flat on your back.

Questions for Your Doctor

  • • Given my D4Z4 repeat count, how often should I be getting pulmonary function tests (PFTs), and what 'baseline' results are we looking for?
  • • Should I have a formal sleep study (polysomnography) to check for nocturnal hypoventilation, even if I don't feel short of breath during the day?
  • • Do I need a referral for a dilated eye exam and an audiometry (hearing) test, and what specific findings (like Coats' disease) are you looking for?
  • • If I am planning to become pregnant, how will we monitor my respiratory health and muscle strength throughout the pregnancy?
  • • Since routine heart screening isn't usually required, what specific 'cardiac symptoms' should I be watching for that would trigger a referral to a cardiologist?

Questions for You

  • • Do I wake up with headaches or feel unusually sleepy during the day, even after a full night's rest?
  • • Have I noticed any subtle changes in my vision, like blurriness, or difficulty hearing high-pitched sounds?
  • • Am I finding it harder to breathe when I am lying flat on my back compared to when I am propped up?

Want personalized information?

Type your question below to get evidence-based answers tailored to your situation.

References

  1. 1

    Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

    Tawil R, Kissel JT, Heatwole C, et al.

    Neurology 2015; (85(4)):357-64 doi:10.1212/WNL.0000000000001783.

    PMID: 26215877
  2. 2

    French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).

    Attarian S, Beloribi-Djefaflia S, Bernard R, et al.

    Journal of neurology 2024; (271(9)):5778-5803 doi:10.1007/s00415-024-12538-3.

    PMID: 38955828
  3. 3

    Respiratory muscle weakness in facioscapulohumeral muscular dystrophy.

    Henke C, Spiesshoefer J, Kabitz HJ, et al.

    Muscle & nerve 2019; (60(6)):679-686 doi:10.1002/mus.26717.

    PMID: 31566774
  4. 4

    A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure.

    Morimoto N, Morimoto M, Takahashi Y, et al.

    eNeurologicalSci 2020; (21()):100284 doi:10.1016/j.ensci.2020.100284.

    PMID: 33195829
  5. 5

    Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network.

    Mathews KD, Suhl J, Conway KM, et al.

    Neuromuscular disorders : NMD 2025; (46()):105240 doi:10.1016/j.nmd.2024.105240.

    PMID: 39579597
  6. 6

    Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

    Moreira S, Wood L, Smith D, et al.

    Journal of neurology 2017; (264(6)):1271-1280 doi:10.1007/s00415-017-8525-9.

    PMID: 28550484
  7. 7

    Respiratory function in facioscapulohumeral muscular dystrophy 1.

    Wohlgemuth M, Horlings CGC, van der Kooi EL, et al.

    Neuromuscular disorders : NMD 2017; (27(6)):526-530 doi:10.1016/j.nmd.2017.03.008.

    PMID: 28416348
  8. 8

    Hereditary Neuromuscular Disorders in Reproductive Medicine.

    Luglio A, Maggi E, Riviello FN, et al.

    Genes 2024; (15(11)) doi:10.3390/genes15111409.

    PMID: 39596609
  9. 9

    Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

    Hazenberg A, van Alfen N, Voet NB, et al.

    Respiratory medicine case reports 2015; (14()):37-9 doi:10.1016/j.rmcr.2014.12.006.

    PMID: 26029575
  10. 10

    Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.

    Goselink RJM, Mul K, van Kernebeek CR, et al.

    Neurology 2019; (92(4)):e378-e385 doi:10.1212/WNL.0000000000006819.

    PMID: 30568007
  11. 11

    Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.

    Chen TH, Wu YZ, Tseng YH

    International journal of molecular sciences 2020; (21(20)) doi:10.3390/ijms21207783.

    PMID: 33096728
  12. 12

    Retinopathy associated with facioscapulohumeral muscular dystrophy. A case report treated with intravitreal dexamethasone implant and laser photocoagulation.

    González Escobar AB, Molina Guilabert IE, García Herrera RM, et al.

    Archivos de la Sociedad Espanola de Oftalmologia 2025; (100(5)):283-288 doi:10.1016/j.oftale.2025.03.014.

    PMID: 40120751
  13. 13

    Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort.

    Neyaz T, Conway KM, Yang Y, et al.

    Neuromuscular disorders : NMD 2026; (60()):106334 doi:10.1016/j.nmd.2026.106334.

    PMID: 41548516
  14. 14

    Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient.

    Triantafyllidou O, Stavridis K, Kastora SL, Vlahos N

    SAGE open medical case reports 2022; (10()):2050313X221081359 doi:10.1177/2050313X221081359.

    PMID: 35251661
  15. 15

    Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

    Vincenten SCC, Van Der Stoep N, Paulussen ADC, et al.

    Clinical genetics 2022; (101(2)):149-160 doi:10.1111/cge.14031.

    PMID: 34297364
  16. 16

    Balancing Risks in Obstetrics: Anesthesia Management in Facioscapulohumeral Muscular Dystrophy with Scoliosis.

    Mani A, Jha S, Kumar V, Kumar S

    AANA journal 2025; (93(5)):371-374 doi:10.70278/AANAJ/.0000001035.

    PMID: 41056148

This page provides educational information about long-term systemic monitoring for FSHD. Always consult your neurologist or primary care doctor for personalized screening recommendations and medical advice.

Stay up to date

Get notified when new research about Facioscapulohumeral dystrophy is published.

No spam. Unsubscribe anytime.