FSHD Symptoms & Patient Experiences

Symptoms of FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is classified as a neuromuscular disease (NMD), as are all types of muscular dystrophy. Muscular dystrophies are marked by progressive skeletal muscle weakness, defects in the physical components of muscle, and the degeneration of muscle cells and tissue. FSHD affects both males and females, with symptoms most often first getting noticeable during adolescence and early adulthood. Around 5% develop symptoms before age 10, while there are also seniors whose symptoms are so mild that they don’t realize they have FSHD.

A common first sign of FSHD, asymptomatic scapular fixator causing scapular winging and difficulty reaching above the shoulder level. Note asymmetry.

FSHD gets its name because the muscle loss is usually noticeable across facial (facio), back (scapula), and upper arm (humeral) muscles, but other areas, such as the abdominal core, hip girdle, and legs are also commonly affected. A highly unusual feature of FSHD is that the muscles are not all affected in the same way at the same time. Typically, one muscle will begin to weaken while nearby muscles remain healthy. Later, a different muscle may be affected. This progresses in an unpredictable way. This is why FSHD usually shows up asymmetrically, affecting only one arm or one leg, for example. Symptoms are often mistakenly attributed to an injury, and it may take many years before a doctor makes the correct diagnosis.

Typical symptoms can (but don’t always) include:

Inability to whistle;
Inability to sip through a straw;
Eyes that don’t close fully during sleep;
Difficulty with sit-ups and pull-ups;
Shoulder blades that “wing” out;
Difficulty raising arm above shoulder height;
Weakness in hands and fingers;

Foot drop (foot dorsiflexion weakness);
Weak lower abdominal muscles, “pregnant” belly;
Loss of chest (pectoral) muscles;
Sunken breastbone (pectus excavatum);
Curved spine (lordosis, kyphosis, scoliosis);
Chronic fatigue;
Pain, often severe (reported in 70% of patients).

Image credit: Original author Daniel C. L. Zammit, used in publication by Christopher R S Banerji and Peter S Zammit edited by Lukelahood - Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. EMBO Mol Med (2021)e13695, https://pubmed.ncbi.nlm.nih.gov/34151531/

Patients can also experience:

Episodes of “malaise” or “burning pain” in muscles;
Frequent falls, with legs just “giving out” without warning;
Breathing problems;
Hearing loss;
Coats’ disease (retinal telangiectasis), which is rare, see Infantile FSHD;
Mild cardiac arrhythmia (5-9% of patients).

Early on, symptoms can be overlooked or mistaken for an injury, and many doctors are unfamiliar with FSHD, so it may take a long time (9 years on average) before the condition is correctly diagnosed. Pain and fatigue can be a significant factor, often under-appreciated, in limiting daily activities. Loss of facial expression and mobility, as well as others’ lack of understanding, can be emotionally distressing and cause people to withdraw socially. Finding social support is life-changing for many, which is why the FSHD Society strongly encourages patients to join a local chapter or one of the many online groups where people can share their experiences and knowledge with one another.

Watch and share our “FSHD 101” video to learn more:

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An unprecedented view of FSHD

This stunning 3D visual impression of FSHD disease is based on a summation of a literature review of magnetic resonance imaging (MRI) studies of individuals with FSHD(1,2,3,4), describing which muscles in the body are reportedly affected. Image courtesy of AMRA Medical and Fulcrum Therapeutics.

References

1. Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2016 Nov 25;264(7):1320–33.

2. Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E, et al. Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy. Martelli F, editor. PLoS ONE. 2014 Jun 16;9(6):e100292–11.

3. Regula JU, Jestaedt L, Jende F, Bartsch A, Meinck HM, Weber MA. Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy. Clin Neuroradiol. 2015 Apr 10;26(4):445–55.

4. Tasca G, Monforte M, Ottaviani P, Pelliccioni M, Frusciante R, Laschena F, et al. Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials. Ann Neurol. 2016 Apr 4;79(5):854–64.

Additional information

Download our brochure About FSHD (Download in Spanish)
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Diagnosis
Genetic testing
Infantile FSHD

Clinical descriptions of symptoms

“Generally, FSHD displays a characteristic gradual spread of muscle involvement, starting in the face and slowly progressing to the shoulder and upper-arm musculature and to the abdominal and foot-extensor muscles” (1). “Foot dorsiflexion weakness leading to footdrop is an early manifestation of FSHD and one amenable to the use of molded ankle-foot orthoses (AFO)” (2). “The most common initial symptom is difficulty reaching above shoulder level. Less common presentations include foot drop (such patients, however, almost invariably have compensated), asymptomatic scapular fixator, and facial weakness on examination. Truncal weakness is an early and frequent manifestation that is easily overlooked during examination of these patients. Weak abdominal muscles result in a protuberant abdomen and contribute to the lumbar lordosis. Lower abdominal muscles are weaker than the upper abdominal muscles, causing a strikingly positive Beevor’s sign, a physical finding fairly specific for FSHD” (2). “Associated non-skeletal muscle manifestations include high-frequency hearing loss as well as retinal telangiectasias, both of which are rarely symptomatic” (2). “Approximately half of the patients present with subclinical high-tone hearing loss and retinovasculopathy” (1). Respiratory involvement in FSHD is not typical but can be seen, especially in patients with severe FSHD. Symptoms and signs of respiratory insufficiency should be sought during routine clinic visits in patients with severe FSHD, and regular monitoring of respiratory function instituted. “Symptomatic respiratory insufficiency can be initially managed with nighttime noninvasive pressure support (BiPAP) but may in severe cases require the use of a ventilator” (2). 1. van der Maarel SM, Frants RR. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2005 Mar; 76(3):375-86. Review. Click to read Abstract 2. Tawil R, van der Maarel SM. “Facioscapulohumeral muscular dystrophy.” Muscle Nerve. 2006 Jul; 34(1):1-15. Review. Click to read Abstract

Other Medical Terms for FSHD

Landouzy-Dejerine Muscular Dystrophy—The older name for FSHD; named after Landouzy and Dejerine, who first described the disease in 1885.
Facioscapulohumeral Disease—The term used by Dr. George W.A.M. Padberg in 1980 to describe FSHD as a multi-system, whole body disease.
Facio-Scapulo-Humeral Muscular Dystrophy—A less common variation of the spelling of facioscapulohumeral muscular dystrophy.
Fascioscapuohumeral Muscular Dystrophy—A less common spelling alternative for FSHD.
Scapulohumeral Muscular Dystrophy—A facial-sparing form of dystrophy whose genetic locus may be the same as that for FSHD. There is no demonstrable facial weakness in affected individuals.
Coats’ Disease—Also called retinal telangiectasis, a disorder characterized by a defect of retinal vascular development that results in vessel leakage, subretinal exudation, and retinal detachment. The disorder was first reported by Coats in 1908. It is usually associated with infantile or early-onset FSHD.
Bilateral Sensorineural Hearing Loss—A high-frequency hearing loss caused by nerve damage in both ears. Usually associated with and clinically symptomatic in infantile or early-onset FSHD.
Hypercarbic Respiratory Insufficiency—Respiratory insufficiency caused by high levels of carbon dioxide (CO2) in the blood.

Symptoms of FSHD

Patients can also experience:

Watch and share our “FSHD 101” video to learn more:

An unprecedented view of FSHD

Additional information

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