What are the symptoms of fascioscapulohumeral muscular dystrophy in a 48-year-old woman?

Symptoms of Facioscapulohumeral Muscular Dystrophy in a 48-Year-Old Woman

The primary symptoms of facioscapulohumeral muscular dystrophy (FSHD) in a 48-year-old woman include progressive weakness and wasting of facial, shoulder girdle, and upper arm muscles, with potential progression to lower extremity weakness in a descending pattern. 1

Core Clinical Manifestations

• Facial weakness: Characteristic facial expression with difficulty smiling, whistling, or closing eyes completely 1
• Scapular winging: Prominent shoulder blade protrusion due to weakness of scapular stabilizing muscles 2
• Shoulder girdle weakness: Difficulty with arm abduction and flexion above shoulder level 2
• Upper arm weakness: Selective involvement of certain muscle groups with relative sparing of the deltoid 2
• Asymmetric presentation: Muscle weakness often shows side-to-side asymmetry, even within the same patient 1

Disease Progression Pattern

• Descending progression: After initial facial and shoulder involvement, weakness typically progresses downward 1
• Lower extremity involvement: May affect either distal anterior leg muscles or hip-girdle muscles 1
• Variable severity: Wide range of disease severity even within affected members of the same family 1
• Functional limitations: Up to 20% of patients eventually become wheelchair-bound despite FSHD being considered a relatively benign dystrophy 1

Associated Non-Muscular Manifestations

• High-frequency hearing loss: Present in some patients but rarely symptomatic 1
• Retinal telangiectasias: Abnormal blood vessels in the retina that rarely cause visual symptoms 1

Atypical Presentations

• Facial-sparing variant: Some patients may present with minimal or no apparent facial weakness, making diagnosis challenging 3, 4
• Limb-girdle pattern: Presentation may mimic limb-girdle muscular dystrophy with predominant shoulder and pelvic girdle weakness 3
• Distal myopathy pattern: Some patients present primarily with distal limb weakness 3
• Foot extensor weakness: Atypical presentation with initial weakness in foot extensors rather than face or shoulders 4
• Thigh or calf muscle weakness: Some patients present with lower extremity weakness as the initial symptom 4

Musculoskeletal Complications

• Scoliosis: Curvature of the spine may develop due to asymmetric muscle weakness 5
• Joint contractures: May develop in later stages of the disease 5
• Decreased muscle bulk: Particularly noticeable in affected muscle groups 5

Functional Impact in Middle-Aged Women

• Activities of daily living: Difficulty with overhead activities, hair combing, reaching high shelves 2
• Mobility challenges: Potential gait abnormalities if lower extremity muscles are involved 1
• Fatigue: Common symptom that can significantly impact quality of life 6

Diagnostic Considerations

• Expert physical examination: May reveal subtle facial weakness, abnormal shoulder configuration, or scapular winging even when not apparent to the patient 4
• Genetic testing: Definitive diagnosis through detection of D4Z4 deletion on chromosome 4q35 1
• Variable expressivity: Clinical symptoms vary widely even with the same genetic mutation 1

Common Pitfalls in Recognition

• Misdiagnosis: FSHD may be misdiagnosed as other muscular dystrophies due to overlapping features 3
• Overlooking subtle signs: Facial weakness may be subtle and overlooked during initial evaluation 4
• Absence of family history: Some cases present without a positive family history, making clinical suspicion important 4

By age 48, a woman with FSHD typically has established disease with a variable clinical picture depending on age of onset and rate of progression, but will most commonly demonstrate the characteristic pattern of facial, shoulder girdle, and upper arm weakness with potential progression to lower extremities.