(Kiosk 2) Facial Weakness and Scapular Winging Concerning for Facioscapulohumeral Muscular Dystrophy in a Patient with Parkinson’s Disease: A Case Report

Case Diagnosis: Patient with history of Parkinson's Disease, found to have facial weakness and scapular winging concerning for Facioscapulohumeral Muscular Dystrophy.

Case Description or Program Description: 46-year-old man with Parkinson’s Disease (PD) presented to clinic complaining of neck pain. It was noted during exam that patient had facial, bilateral pectoralis major and right bicep weakness, along with scapular winging. Right leg atrophy without significant weakness was present. His symptoms of right upper extremity weakness started in his twenties and slowly progressed. PD was diagnosed in 2020 when patient began having a right arm tremor, and has been responsive to rasagiline and carbidopa/levodopa. Based on the patient’s presenting symptoms of asymmetric, progressive facial and shoulder girdle weakness, the patient was referred to Neuromuscular Medicine for Facioscapulohumeral Muscular Dystrophy (FSHD) genetic testing. FSHD is an autosomal dominant muscular dystrophy with more than 95% of patients carrying a deletion of the 3.3 kb tandem repeat D4Z4 on chromosome 4q35. It is the third most common muscular dystrophy, with typical onset of facial and scapula-stabilizer muscle weakness starting in the first or second decade of life. Diagnosis is confirmed with genetic testing.
FSHD is primarily managed with physical therapy and rehabilitation. Some patients may require pain control and orthopedic intervention. Life span is not significantly affected in most cases of FSHD.

Setting: Outpatient Musculoskeletal Clinic

Assessment/Results: Genetic Testing for FSHD1/2 pending.

Discussion (relevance): Previous case reports and studies have suggested an association between movement disorders and FSHD. It has been hypothesized that there is a link in the pathogenesis of muscular dystrophies and Central Nervous System involvement. This case also draws attention to the likely delay in diagnosis of FSHD in light of the patient’s existing PD.

Conclusions: This case highlights the potential link between movement disorders and muscular dystrophies, and the overshadowing of FSHD by a previous diagnosis of PD.