Effect Of Structured Exercise Regimen On Quality Of Life, Balance And Strength On A Patient With Miyoshi Myopathy – A Case Report

Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper limb muscles. Still, the intrinsic muscles of the foot and hands are spared. There are several undiagnosed cases in India and also around the world with dysferlinopathy. Diagnosis for the same requires advanced biological laboratories along with high economic funding for diagnostic purposes. Case Summary: This case report presents a 22-year-old male diagnosed with Miyoshi myopathy/LGMD2b (dysferlinopathy). The subject complained about a loss of balance, strength, and difficulty in performing activities of daily living. The patient was given Aquatic Therapy along with conventional physical therapy for a duration of 6weeks, which included three days of supervised therapy along with 3days home protocol and a rest day kept at the end of every week. Outcome Measures: Standardized scales like the Barthel Index and the Berg Balance Scale were used for the assessment of pre and post the progress of the subject for Quality of Life and Balance, respectively. Manual Muscle testing was used for assessments for pre and post muscle strength of the subject. Conclusion: The timely diagnosis of a rare condition before the advancement of the disorder and thus the use of appropriate intervention of physiotherapy, which consisted of progressive muscle-strengthening exercises along with balance training proved to be promising in preventing falls, muscle atrophy and thus making the patient independent for doing daily activities.

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy

Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 +/- 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonspecific dystrophic features and frequent inflammatory cell infiltration. Muscle imaging studies showed fatty atrophic changes dominantly in the posterolateral muscles of the lower limb. The patients with dysferlinopathy were classified by initial muscle weakness: fifteen patients with Miyoshi myopathy phenotype (MM), thirteen patients with limb girdle muscular dystrophy 2B phenotype (LGMD2B), two patients with proximodistal phenotype, and one asymptomatic patient. There were no differences between LGMD2B and MM groups in terms of onset age, serum CK levels and pathological findings. Dysferlinopathy patients usually have young adult onset and high serum CK levels. However, heterogeneity of clinical presentations and pathologic findings upon routine staining makes it difficult to diagnose dysferlinopathy. These limitations make immunohistochemistry currently the most important method for the diagnosis of dysferlinopathy.

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue.

Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein. Awareness of the variants and their relative frequency is essential for accurate diagnosis. Aim: To study the spectrum of morphologic changes in immunohistochemically proven cases of dysferlinopathies, to correlate the findings with clinical phenotype and durations of illness and determine the frequency. Materials and Methods: Dysferlinopathies seen over a period of 2 years at a tertiary neurological center were analyzed. Results: Clinically, majority had Miyoshi phenotype (46.6%) with distal involvement and LGMD phenotype (40%) with proximal muscle involvement. In addition, a proximo-distal and tibial muscle phenotype was encountered. Morphologically, rimmed vacuoles were noted in the Miyoshi phenotype. The presence of ragged red fibers, lobulated fibers and inflammation had no preference to a particular phenotype. Significant atrophy and lobulated fibers were noted in patients with longer duration of illness. Conclusions: Dysferlinopathy was the second most common identifiable cause (21%) of LGMD next to sarcoglycanopathies (27%).

Mutation analysis of dysferlin gene in a Chinese family with Miyoshi myopathy / 临床检验杂志

Objective Two autosomal recessive forms of muscular dystrophy:LGMD2B and Miyoshi myopathy may be indused by dysferlin gene mutation.The purpose of this study was to define molecular defects in dysferlin gene in a family with Miyoshi myopathy.Methods mRNA from peripheral blood in a Chinese Miyoshi myopathy pedigree was amplified by RT-PCR and the mutation was determined by sequencing the amplified products.Results The results of sequencing revealed a novel homozygous mutation,a 6429delG,on exon 53 of the dysferlin gene for the patients.Conclusion The 6429delG mutation in the dysferlin gene of patients creates a frameshift mutation which induces a stop codon at 2035 on exon 54 and the premature dysferlin contributes to the Miyoshi myopathy in the Chinese pedigree.

Immunocytochemical and Western Blot Analysis in Miyoshi Myopathy

BACKGROUND: Recent genetic analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF, which induces the dysfunction of dysferlin. We identified the deficiency of dysferlin by immunohistochemistry and Western blot in four patients with clinically diagnosed MM, and investigated the clinical and pathological characteristics of MM. METHODS: A muscle biopsy was performed in four patients who were diagnosed with MM by clinical and electrophysiological study. Immunostaining of muscle specimens for dyferlin, dystrophin, alpha, beta, gamma, sigma-sarcoglycan, beta-dystroglycan, and caveolin-3 were performed in all four patients. We analyzed the quantitative analysis for dysferlin by Western blot in three of four patients. RESULTS: All four patients showed clinical onset during adolescence or early adulthood (15-26 year old), a slowly progressive course, and a relatively high serum creatine kinase level (2240-6400 IU/L). Routine pathological studies showed non-specific myopathic changes. On immunocytochemistry, there was negative immunoreacticity for dysferlin on muscle specimens in all patients. The immunoreactivities for dystrophin, alpha, beta, gamma, sigma-sarcoglycan, beta-dystroglycan, and caveolin-3 were normal. On Western blotting, complete loss of dysferlin was noted in all three patients with MM CONCLUSIONS: Identification of isolated deficiency of dysferlin on immunocytochemistry or Western blot is important for the confirmative diagnosis of MM.

Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.

A Case of Miyoshi Type Distal Myopathy

No abstract available.

Miyoshi Myopathy: A case report

Miyoshi myopathy is a rare distal myopathy of early adult onset and autosomal recessive inheritance. Weakness usually appears between 15 and 30 years of age starting from the posterior compartment of the legs. Serum creatine kinase (CK) level is characteristically elevated to 10- to 100-fold above the normal range. Muscle biopsy shows myopathic changes without vacuoles consistent with muscular dystrophy. It has not been reported in Korea as yet, so far as we know. We report a 23-year-old female who had the typical manifestations of Miyoshi myopathy with the brief review of literatures.

Distal Myopathy of Miyoshi Type: 1 Case

Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.

Distal Myopathy of Miyoshi Type: 1 Case

Miyoshi myopathy (MM) is a type of distal myopathy that is characterized by an early adult onset and a prominent involvement of the gastrocnemius muscles. Weakness usually appears between 15 and 30 years of age starting in the posterior compartment of the legs. Creatine kinase (CK) values are characteristically elevated to levels 10 to 100 fold above normal range. Here we report one patient who was diagnosed as MM. She developed a motor weakness in her early thirties. There was an early and predominant involvement of the gastrocnemius muscles. Creatine kinase activity was elevated 10 to 15 fold above normal range. Electromyography revealed fibrillations, positive sharp waves, and a myopathic pattern of motor unit potentials, particularly in the distal muscles of the lower limbs. Myopathic features without vacuoles were seen in the vastus lateralis muscle. This is the first case report of MM in Korea, which should be considered in the differential diagnosis of slowly progressive weakness of distal legs.

Clinical and pathological features of Miyoshi myopathy with dysferlin protein deficient / 临床神经病学杂志

Objective To investigate the clinical and pathological features of Miyoshi myopathy(MM) with dysferlin protein deficient. Methods The clinical and pathological data of the 3 patients with MM were analysed. Results 3 patients were onset at youngster.The clinical manifestation were myastheria and myoatrophy in distal of lower limbs.1 case combined myalgia and tumefaction in lower limbs at early stage of onset;1 case showed myathenia in proximal of lower limbs.The level of serum creatine phosphokinase (CK) was significantly ligher in the 3 cases (7543 IU/L, 5657 IU/L, 8721 IU/L respectively). The level of serum lactic dehydrogenase (LDH) was significantly higher in the 2 cases (456 IU/L ,636 IU/L respectively).The result of muscle pathology was showed myogenic damage in all the cases. The expression of dysferlin protain in membrane of muscle cells was completely deficient, although the expression of dystrophin was normal. Inflammatory cells infiltration was found in 1 case's muscle tissue. Conclusions The clinical characters of MM patient are onset at youngster,myasthenia and myoatrophy in lower limbs.The deficit of dysferlin protain can be found by pathology.