Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases* ; Mutation, Missense* ; Myofibrils ; Pathology ; Respiratory Insufficiency ; Sarcolemma ; Tropomyosin

Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.
Humans ; Inheritance Patterns ; Muscle Weakness ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Pathology

Here we report a case of the classical inclusion body myositis. The muscle pathology in a 61-year-old male patient with slowly progressive proximal muscle weakness and atrophy revealed basophilic rimmed vacuoles on light microscope and intracytoplasmic filamentous inclusions with membranous whorls through electron microscope. He did not respond to steroid therapy.
Atrophy ; Basophils ; Humans ; Inclusion Bodies* ; Male ; Middle Aged ; Muscle Weakness ; Myositis, Inclusion Body* ; Pathology ; Vacuoles

Acute Disease ; Animals ; Dimethoate ; analogs & derivatives ; poisoning ; Disease Models, Animal ; Male ; Mice ; Muscle Weakness ; chemically induced ; pathology ; Muscles ; pathology

Lower Extremities Committee of Korean Academy of Medical Sciences Guideline for Impairment Rating develops new guidelines which are based on McBride method, American Medical Association Guides, Disability evaluation by The Korean Orthopaedic Association, The Korean Neurosurgery Society, and Korean Academy of Rehabilitation Medicine. The committee analyzed and discussed to create an ideal method practical in Korea. Our committee endeavors to develop new methods which are easy to use, but are suitable for professional use and also independent from the examinee's intentions. The lower extremities are evaluated on the basis of anatomic change, functional change, and diagnosis based evaluation. Nine methods are used to assess the lower extremities. Anatomic assessment includes leg length discrepancy, ankylosis, amputation, skin loss, peripheral nerve injury, and vascular disease. In functional assessment, range of motion and muscle strength are included. Diagnosis-based assessments are used to evaluate impairment caused by specific fractures, deformities, ligament instability, meniscectomies, post-traumatic arthritis, fusion of the foot, and lower extremity joint replacements.
Ankylosis/classification/physiopathology ; *Disability Evaluation ; Humans ; Korea ; Lower Extremity/pathology/*physiopathology ; Muscle Weakness/classification/physiopathology ; Program Development ; Severity of Illness Index

BACKGROUND: Although a common shoulder disease, there are no accepted classification criteria for frozen shoulder (FS). This study therefore aimed to evaluate the accuracy of the conventionally used FS classification system. METHODS: Primary FS patients (n=168) who visited our clinic from January 2010 to July 2015 were included in the study. After confirming restrictions of the glenohumeral joint motion and absence of history of systemic disease, trauma, shoulder surgery, shoulder muscle weakness, or specific x-ray abnormalities, the Zuckerman and Rokito's classification was employed for diagnosing primary FS. Following clinical diagnosis, each patient underwent a shoulder magnetic resonance imaging (MRI) and blood tests (lipid profile, glucose, hemoglobin A1c, and thyroid function). Based on the results of the blood tests and MRIs, the patients were reclassified, using the criteria proposed by Zuckerman and Rokito. RESULTS: New diagnoses were ascertained including blood test results (16 patients with diabetes, 43 with thyroid abnormalities, and 149 with dyslipidemia), and MRI revealed intra-articular lesions in 81 patients (48.2%). After re-categorization based on the above findings, only 5 patients (3.0%) were classified having primary FS. The remaining 163 patients (97.0%) had either undiagnosed systemic or intrinsic abnormalities (89 patients), whereas 74 patients had both. CONCLUSIONS: These findings demonstrate that most patients clinically diagnosed with primary FS had undiagnosed systemic abnormalities and/or intra-articular pathologies. Therefore, a modification of the Zuckerman and Rokito's classification system for FS may be required to include the frequent combinations, rather than having a separate representation of systemic abnormalities and intrinsic causes.
Bursitis ; Classification ; Diagnosis ; Glucose ; Hematologic Tests ; Humans ; Magnetic Resonance Imaging ; Muscle Weakness ; Pathology ; Shoulder ; Shoulder Joint ; Thyroid Gland

Bilateral suprascapular nerve entrapment syndrome is very rare. It presents with shoulder pain, weakness and atrophy of the supraspinatus and infraspinatus muscles. We present a twenty-year old man having a history of bilateral shoulder pain associated with weakness. Electromyographic studies revealed signs of a lesion that caused a neupraxic state of the left suprascapular nerve, moderate axonal loss of the right suprascapular nerve and denervation of the right suprascapular muscle. The patient was treated with physical and medical therapy. Due to worsening of the symptoms, a surgical operation was performed by the excision of the transverse scapular ligaments bilaterally. His pain, weakness and atrophy had diminished on examination six weeks later. Suprascapular nerve entrapment should be considered in patients with shoulder pain, particularly those with weakness and atrophy of the supraspinatus and infraspinatus muscles.
Adult ; *Back ; Human ; Magnetic Resonance Imaging ; Male ; Muscle Weakness/etiology/*pathology ; Muscular Atrophy/etiology/*pathology ; Nerve Compression Syndromes/complications/*pathology ; Pain/etiology/pathology ; *Shoulder

Becker muscular dystrophy is a X-linked recessive disease with the affected gene at locus Xp21, characterized by progressive muscular weakness. Without the definite family history, it has been known that the diagnosis of this disease is almost impossible on clinical grounds alone. We reviewed the muscle pathology of two casses of genetically confirmed Becker muscular dystrophy to know the diagnositc significances of this study. The first case, a 20 year old man, is the classical one with definite family history of X-linked recessive heredity. The muscle pathology of the biceps showed dystrophic muscular changes, including increased internal nuclei, marked variation of fiber sizes and mild endomysial fibrosis. The dystrophin stain of the muscle was also confirmative for the diagnosis. The second case was a 32 year old man who has been biopsied his left vastus lateralis 5 years before this genetic diagnosis. This case is a sporadic one without the family history. The diagnosis at the time of muscle biopsy was limb-girdle muscular dystorphy or inclusion body myositis because of the typical rimmed vacuoles and marked variation of fiber sizes. The dystophin stain was not available at that time. Our conclusion is that the molecular genetic study and/or dystrophin protein test of muscle biopsy should be done in every clinically suspected patient, including limb-girdle muscular dystorphy, inclusion body myositis or rimmed vacuolar myopathies.
Adult ; Biopsy ; Diagnosis ; Dystrophin ; Fibrosis ; Heredity ; Humans ; Incontinentia Pigmenti* ; Molecular Biology ; Muscle Weakness ; Muscular Diseases ; Muscular Dystrophy, Duchenne ; Myositis, Inclusion Body ; Pathology ; Quadriceps Muscle ; Vacuoles ; Young Adult

The function of inspiratory muscles is crucial for effective cough as well as expiratory muscles in patients with Duchenne muscular dystrophy (DMD). However, there is no report on the correlation between cough and inspiratory muscle strength. To investigate the relationships of voluntary cough capacity, assisted cough techniques, and inspiratory muscle strength as well as expiratory muscle strength in patients with DMD (n=32). The vital capacity (VC), maximum insufflation capacity (MIC), maximal inspiratory pressure (MIP), and maximal expiratory pressure (MEP) were measured. Unassisted peak cough flow (UPCF) and three different techniques of assisted PCF were evaluated. The mean value of MICs (1918 +/- 586 mL) was higher than that of VCs (1474 +/- 632 mL) (p < 0.001). All three assisted cough methods showed significantly higher value than unassisted method (212 +/- 52 L/min) (F = 66.13, p < 0.001). Combined assisted cough technique (both manual and volume assisted PCF; 286 +/- 41 L/min) significantly exceeded manual assisted PCF (MPCF; 246 +/- 49 L/ min) and volume assisted PCF (VPCF; 252 +/- 45 L/min) (F = 66.13, p < 0.001). MIP (34 +/- 13 cmH2O) correlated significantly with both UPCF and all three assisted PCFs as well as MEP (27 +/- 10 cmH2O) (p < 0.001). Both MEP and MIP, which are the markers of respiratory muscle weakness, should be taken into account in the study of cough effectiveness.
Respiratory Muscles/*pathology ; Pressure ; *Oxygen Consumption ; Muscular Dystrophy, Duchenne/*genetics ; Muscles/pathology ; Muscle Weakness/pathology ; Models, Statistical ; Male ; Inspiratory Capacity ; Humans ; Cough ; Biopsy ; Adult ; Adolescent

Duchenne muscular dystrophy (DMD) is the most common and lethal dystrophy in childhood, caused by mutations in the dystrophin (DMD) gene. Multiplex ligation dependent probe amplification (MLPA) or array comparative genome hybridization (aCGH) is widely used as an initial molecular diagnostic tool. If no deletions or duplications are found in MLPA or aCGH, the samples must be subjected to a second test of direct sequencing. Direct sequencing of the DMD gene, however, is time-consuming, high-cost, and can be inconclusive. Here, we performed whole exome sequencing on a patient with progressive muscle weakness whose MLPA result was negative; the result revealed a rare frame shift mutation. Direct sequencing on the patient's mother showed the same mutation. Whole exome sequencing can be a new diagnostic routine for DMD patients with negative MLPA3.
Comparative Genomic Hybridization ; Dystrophin ; Exome* ; Frameshift Mutation ; Genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Mothers ; Multiplex Polymerase Chain Reaction ; Muscle Weakness ; Muscular Dystrophy, Duchenne* ; Pathology, Molecular