Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio-scapulo-humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and lumbar lordosis; pelvic muscles were mostly spared. An extensive muscle MRI assessment including neck, shoulder, abdominal, pelvic and lower limb muscles documented radiological features typical of DM1 and FSDH. Molecular genetic studies confirmed that the proband carried both a pathologically expanded DMPK allele, inherited from his father, and a de novo shortened D4Z4 repeat fragment at 4q35 locus.

Balance and walking involvement in facioscapulohumeral dystrophy: a pilot study on the effects of custom lower limb orthoses.

BACKGROUND: Autosomal dominant facioscapulohumeral dystrophy (FSHD), the third most common muscular dystrophy, is characterised by asymmetric and highly variable muscle weakness. In FSHD patients, the coupling of the ankle muscles impairment with the knee, hip and abdominal muscles impairment, causes complex alterations of balance and walking with deterioration of quality of life (QoL). AIM: The aim of this pilot study is to evaluate the effects of custom orthoses (foot orthosis-FO and ankle foot orthosis-AFO) on balance, walking and QoL of FSHD patients through a multidimensional approach. DESIGN: Pilot study. SETTING: Outpatient Rehabilitation Department of Don Gnocchi Foundation. POPULATION: Fifteen patients with facioscapulohumeral muscular dystrophy were studied. METHODS: On 15 FSHD patients clinical evaluation (Manual Muscle Test-MMT, Clinical Severity Score), performance tests (10 meter Walking test-10mWT and 2 minute Walking Test-2minWT), instrumental assessment (stabilometric evaluation), disability (Rivermead Mobility Index- RMI, Berg Balance Scale-BBS) and patient-oriented (Medical Outcome Study 36-item Short Form-SF-36, North American Spine Society-NASS and Visual Analogue Scale-VAS) measures were performed. Patients were evaluated first, wearing their shoes and then wearing their shoes plus orthoses. This evaluation was performed 1 month after wearing the orthoses. RESULTS: The shoes plus orthoses evaluation, performed after one month in which the patients daily wore the custom lower limb orthoses, showed a significant improvement of walking performance (10-mWT p<0.01), balance (Romberg Index p<0.05; Medio-Lateral Velocity p<0.05) and QoL (PCS p<0.01). CONCLUSION: This pilot study shows that in FSHD patients' custom lower limb orthoses (foot-orthoses and ankle-foot-orthoses); evaluated by using a multidimensional approach, improve walking, balance and QoL. CLINICAL REHABILITATION IMPACT: These preliminary results suggest that custom lower limb orthoses could reduce the risk of falling with a positive effect on our patients' safety. Our results should encourage the scientific community to do efficacy study on this hot topic.

Muscle MRI in female carriers of dystrophinopathy.

BACKGROUND AND PURPOSE: Duchenne muscular dystrophy carriers represent a rare condition that needs to be recognized because of the possible implications for prenatal diagnosis. Muscle biopsy is currently the diagnostic instrument of choice in sporadic patients. We wanted to verify whether muscle magnetic resonance imaging (MRI) could identify a pattern of involvement suggestive of this condition and whether it was similar to that reported in Duchenne and Becker muscular dystrophy. METHODS: Evaluation of pelvic and lower limb MRI scans of 12 dystrophinopathy carriers was performed. RESULTS: We found a frequent involvement of the quadratus femoris, gluteus maximus and medius, biceps femoris long head, adductor magnus, vasti and paraspinal muscles, whilst the popliteus, iliopsoas, recti abdominis, sartorius, and gracilis were relatively spared. Asymmetry was a major feature on MRI; it could be detected significantly more often than with sole clinical examination and even in patients without weakness. CONCLUSIONS: The pattern we describe here is similar to that reported in Duchenne and Becker muscular dystrophy, although asymmetry represents a major distinctive feature. Muscle MRI was more sensitive than clinical examination for detecting single muscle involvement and asymmetry. Further studies are needed to verify the consistency of this pattern in larger cohorts and to assess whether muscle MRI can improve diagnostic accuracy in carriers with normal dystrophin staining on muscle biopsy.