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.

FSHD shoulders
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. Muscle weakness typically sets in asymmetrically, affecting only one arm or one leg, for example. Symptoms may appear years before a formal diagnosis by a doctor. These 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).

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:

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