Signs & Symptoms of FSHD

Signs & Symptoms of FSHD

FSHD is highly variable and does not follow a standard pattern of weakness.

FSHD is highly variable and does not follow a standard pattern of weakness, nor does the disease progress in the same way for everyone.

 

FSHD gets its name because the muscle loss is usually noticeable across facial (facio), back (scapula), and upper arm (humeral) muscles. However, other areas can also be affected, such as the abdominal core, hip girdle, and legs.

FSHD is highly variable and does not follow a standard pattern of weakness.

Muscle weakness typically develops asymmetrically, affecting only one arm or one leg, for example. This asymmetric weakness may differ between limbs on the same person, or there may be one whole side of the body that appears weaker. Symptoms may appear years before a formal diagnosis by a doctor. For some people, the weakness may have developed so slowly that they were unaware they were experiencing muscle loss.

 

FSHD does not follow a standard course of progression; every person can experience a slightly different pattern of symptoms. However, there are some common symptoms which are often first noticed, or perhaps the first obvious signs of disability:

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

  • Inability to pucker the lips e.g. to blow a balloon or to whistle.
  • Inability or difficulty to sip through a straw.
  • Eyes that don’t close fully during sleep.
  • Difficulty with sit-ups and pull-ups.
  • Shoulder blades that stick out (known as ‘winging’).
  • Difficulty raising arms 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).

The following signs and symptoms are less common but can be associated with FSHD:

  • Episodes of ‘malaise’ or ‘burning pain’ in muscles.
  • Frequent falls, with legs just ‘giving out’ without warning.
  • Breathing problems.
  • Hearing loss.
  • Abnormal heart rhythm (mild cardiac arrhythmia, 5-9% of patients).
  • Abnormal blood vessel growth in the retina (Coats’ disease) – very rare.

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