Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

Abstract

Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.

Clinical Muscle Testing Compared with Whole-Body Magnetic Resonance Imaging in Facio-scapulo-humeral Muscular Dystrophy

“…Jordan et al presume that a weakness of hamstrings might contribute to camptocormia. Our findings do not show a marked affection of the hip extension (gluteus maximus) either clinically or in MRI, but we could detect a marked affection of the knee flexion (semimembranosus) clinically and in MRI [33]. Our findings are in good agreement with the results of Olsen et al [16] who reported a significant correlation between muscle strength and fatty MRI degeneration in the hip and thigh muscles, including MRI affection of some leg muscles despite normal function on manual testing.…”

What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

“…Erector spinae muscle weakness can rarely cause ‘bent spine syndrome’ (camptocormia) 10. The combined weakness of abdominal and back muscles is an important contributor to patients’ loss of balance and subsequent falling 11.…”

Facioscapulohumeral Muscular Dystrophy

“…Patients can develop debilitating paraspinal muscle weakness, which can be an initial presentation. 10 Although the most common presentation is with facial and shoulder weakness and a descending pattern of progression, many different initial presentations have been described, including bent-spine and less specific limb girdle patterns. The rate of progression has been evaluated in a large prospective natural history study, which demonstrated a loss of strength using combined quantitative strength testing and manual muscle testing of about 1-4% per year.…”