A 43-year-old wheelchair-bound woman from 2006, affected by FSHD, underwent 6-month exercise therapy associated with NS to study metabolic and possible changes in motor function related to the program. The patient was born from uneventful pregnancy and delivery to non-consanguineous parents, with family history negative for MD. The patient carries a “de novo” D4Z4 reduced allele with 2 repeats (14 kb). When she was 2 yrs her parents noted difficulty of walking and waddling gait. At 4 she was diagnosed having a muscle disease. At 11 she was clinically diagnosed with a progressive MD. At 30 neurological examination revealed left steppage gait, facial weakness, atrophy of shoulder girdle muscles with bilateral scapular winging, atrophy of bilateral pectoralis, infraspinatus and supraspinatus muscles, moderate biceps brachii and severe deltoid weakness, foot extensor weakness and proximal hip weakness, lumbar hyperlordosis; lower extremities tendon reflexes were absent, sensory examination was normal. In 1982 a muscle biopsy revealed myopathic changes compatible with FSHD. Presently she presents severe muscle hypotrophy and proximal-distal weakness leading to loss of ambulation in 2006 and severe lumbar hyperlordosis (FSHD score 12 according to Lamperti et al. []). In 2001 respiratory function assessment first revealed mild respiratory restrictive insufficiency (%pred: VC 75.9; FVC 82.3; FEV1 88.50; FEV1%/VCmax 133, see Figure ).