Physical

See the list below:

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
- Seizures
- 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.^[8]

Differential Diagnoses

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