Objective: This case highlights the importance of considering possible overlaps with PSP and other neurodegenerative diseases.

Background: Facio-Scapulo-Humeral Dystrophy is a common muscular dystrophy featuring progressive weakness, mostly involving facial muscles and the scapular cingulum. FSHD is an autosomal dominant inherited disease driven by the contraction of the D4Z4 region of chromosome 4. Patients with FSHD have a high life expectancy, about 20% of FSHD subjects need wheelchairs in their 50s, and extra-muscular involvement is rare, however, no epidemiological studies have been carried out on this data.

Method: Our case describes a man affected by FSHD who, in his 60s, developed atypical parkinsonism diagnosed as Progressive Supranuclear Palsy.

Results: In his early 60s, a man came to our Movement Disorder outpatient service due to progressive slowness and fatigue. His medical history included urinary incontinence and FSHD, clinically diagnosed in his childhood due to the appearance of progressive motor deficits with scapular onset, confirmed in his late 40s by muscle biopsy and genetic workup.

The patient had been suffering from progressive motor impairment for the last 5 years. The neurological examination revealed hyposthenia of the mimic and antigravity muscles, with severe involvement of the deltoids. The patients also showed extrapyramidal signs, including vertical gaze limitation, lateral gaze-evoked nystagmus, mild limb rigidity, severe axial rigidity, severe postural imbalance, frequent freezing episodes, and dysphagia. Frontal release signs and the clap test were positive. The patient showed executive dysfunction and obsessive behaviors.

The clinical features were compatible with atypical parkinsonism. An MRI scan of the brain and SPECT with Dat-scan were performed that confirm the diagnostic suspicion.

Conclusion: The impaired dopaminergic neurotransmission combined with the clinical presentation were compatible with a diagnosis of probable Progressive Supranuclear Paralysis-Richardson’s Syndrome, according to current criteria. Despite the known poor levodopa response of PSP, a therapy with levodopa/benserazide 100/25 mg tid was started, producing minimal improvement of the symptoms. The differential diagnosis between the worsening of a neuromuscular condition and the onset of a movement disorder can be challenging but can be supported by neuroimaging exams.

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