Simultaneous calf reduction and contouring with customized differential subtotal gastrocnemius resection and muscle transposition: Analysis of 200 cases.

BACKGROUND: Oversized muscular calves can cause severe emotional distress. Total, partial, and subtotal resections of the gastrocnemius muscle for calf reduction have been described. However, the amount of muscle resected may be inappropriate, and the resultant leg contour may not be straight or esthetically pleasing enough. OBJECTIVES: This study aimed to describe a technique of customized differential subtotal gastrocnemius resection and muscle transposition. METHODS: A total of 200 patients who underwent customized differential subtotal gastrocnemius resection and muscle transposition for hypertrophic muscular calves from July 2013 to June 2016 were included in the study. RESULTS: A total of 148 patients underwent subtotal resection of both heads, and calf reduction ranged from 3.2 to 7.2 cm (mean 14.8%). Forty-two patients underwent subtotal resection of the medial head alone, and calf reduction ranged from 2.8 to 5.5 cm (mean 9.2%). Ten patients underwent subtotal resection of the lateral head alone, and calf reduction ranged from 1.2 to 2.1 cm (mean 4.6%). The medial gastrocnemius muscle was subtotally resected in 190 (95%) patients. In 130 (65%) patients, the preserved medial gastrocnemius muscle was transposed superomedially to achieve a straighter medial contour. None of the patients complained that their legs were too thin because of over-reduction. Cybex test showed that near-total muscle strength recovery was achieved within 6 months. CONCLUSION: Customized differential subtotal gastrocnemius resection together with muscle transposition resulted in enhanced calf reduction with straighter leg contour, without any impairment of the leg function. This approach may be more appealing to both patients and surgeons.

Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.

BACKGROUND: The ANO5 gene encodes for anoctamin-5, a chloride channel involved in muscle cell membrane repair. Recessive mutations in ANO5 are associated with muscular diseases termed anoctaminopathies, which are characterized by proximal or distal weakness, or isolated hyperCKemia. We present the largest series of patients with asymptomatic/paucisymptomatic anoctaminopathy reported so far, highlighting their clinical and radiological characteristics. METHODS: Twenty subjects were recruited retrospectively from the Neuromuscular Disorders Units database of two national reference centers. All had a confirmed genetic diagnosis (mean age of diagnosis was 48 years) established between 2015 and 2019. Clinical and complementary data were evaluated through clinical records. RESULTS: None of the patients complained about weakness or showed abnormal muscular balance. Among paucisymptomatic patients, the main complaints or findings were generalized myalgia, exercise intolerance and calf hypertrophy, occasionally associated with calf pain. All patients showed persistent hyperCKemia, ranging from mild-moderate to severe. Muscle biopsy revealed inflammatory changes in three cases. Muscle magnetic resonance imaging revealed typical signs (preferential involvement of adductor and gastrocnemius muscles) in all but one patient. In two cases, abnormal findings were detectable only in STIR sequences (not in T1). Three patients showed radiological progression despite remaining asymptomatic. Twelve different mutations in ANO5 were detected, of which seven are novel. CONCLUSIONS: Recessive mutations in ANO5 are a frequent cause of undiagnosed asymptomatic/paucisymptomatic hyperCKemia. Patients with an apparent indolent phenotype may show muscle involvement in complementary tests (muscle biopsy and imaging), which may progress over time. Awareness of anoctaminopathy as the cause of nonspecific muscular complaints or of isolated hyperCKemia is essential to correctly diagnose affected patients.

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.

Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness. Calf hypertrophy and selective fatty replacement of the adductor magnus and gastrocnemius muscles were prominent clinical and muscle imaging features. This case suggests that LGMD2L may affect a broader population than has been previously thought, physicians should consider the possibility of ANO5 mutation even in patients showing elevated CK level with no apparent muscle weakness but muscle stiffness or cramps.

Duchenne muscular dystrophy: Case report and review.

Muscular dystrophies are a clinically and heterogeneous group of disorders that all share clinical characteristics of progressive muscular weakness. Duchenne muscular dystrophy (DMD) is the most common X-linked disorder muscular dystrophy in children, presenting in early childhood and characterized by proximal muscle weakness and calf hypertrophy in affected boys. There is usually delay in motor development and eventually wheelchair confinement followed by premature death from cardiac or respiratory complications. Treatment modalities such as corticosteroid therapy and use of intermittent positive pressure ventilation have provided improvements in function, ambulation, quality of life, and life expectancy, although novel therapies still aim to provide a cure for this devastating disorder. Here, we present a case of DMD in a 12-year-old male with remarkable clinical and oral manifestations.

Calf muscle involvement in Becker muscular dystrophy: when size does not matter.

INTRODUCTION: Calf hypertrophy is a common feature in Becker muscular dystrophy (BMD), and it is still debated to which extent fatty degeneration or true muscle hypertrophy account for it. We wanted to investigate the relative contribution of these two components using a simple image analysis approach and their possible correlation with disease severity. METHODS: Twenty-nine BMD patients' MRI scans were analyzed. A semiquantitative visual score assessing fatty replacement of calf muscles (calf MRI score, CMS) was calculated and correlated with the cross sectional area (CSA) of lower leg posterior compartment muscles, digitally measured on acquired images. RESULTS: The correlation between CSA and CMS was not significant. CMS in contrast correlated with disease severity (p<0.001) while CSA did not (p=0.969). CONCLUSIONS: In BMD, a major contribution to calf hypertrophy is provided by real muscle hypertrophy rather than by fatty degeneration. CMS appears to be a potential surrogate marker of disease severity.