Facioscapulohumeral Dystrophy Clinical Presentation
- Author: Naganand Sripathi, MD; Chief Editor: Amy Kao, MD more...
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- Initial weakness is seen in facial muscles, starting in the orbicularis oculi, orbicularis oris, and zygomaticus.
- Patients may have difficulty with labial sounds, whistling, or drinking through a straw.
- Weakness may be asymmetric.
- Extraocular and pharyngeal muscles are spared.
- Shoulder weakness is the presenting symptom in more than 82% of patients with symptoms.
- Scapular fixation is weak from the onset. Winging of the scapula is the most characteristic sign. The scapula is placed more laterally than normal. It moves upwards in shoulder abduction.
- The deltoid muscle usually is spared, and shoulder abduction weakness is predominantly due to weak scapula fixation.
- If the scapula is stabilized manually against the chest wall, the patient may experience improved movement. Upward slope of the anterior axillary fold results from weakness of the pectoralis major.
- Truncal weakness is early. Lower abdominal muscles are weaker than upper abdominal muscles, resulting in the Beevor sign, a physical finding very specific for FSHD. The Beevor sign is the upward movement of the umbilicus toward the head when flexing the neck.
- Weakness of foot dorsiflexion follows shoulder weakness.
- Tibialis anterior muscle weakness is highly characteristic, whereas posterior muscles of the leg are spared.
- In a few patients, a foot-drop gait is the presenting complaint. In more than 50% of patients, the pelvic girdle muscles are never involved.
- Atypical phenotypes in patients with FSHD
- Scapulohumeral dystrophy (SHD) or facial-sparing SHD with or without myalgia
- FSHD with chronic progressive external ophthalmoplegia (CPEO)
- Limb-girdle muscular dystrophy syndrome
- Distal myopathy
- Asymmetric brachial weakness
- Extramuscular manifestations are as follows:
- High-frequency hearing loss in almost 75%
- Retinal telangiectasias in about 60%
- Atrial arrhythmias in 5%
- Restrictive respiratory disease in 1%
- Mental retardation
- Sleep-disordered breathing (SDB) is very common in FSHD. Obstructive sleep apnea, REM-related oxygen desaturation, or mixed pattern were observed in 39% of FSHD patients. SDB is not related to severity of the disease.
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