[…] and atrophy (wasting), mainly in the distal parts of the legs. 0003738 Pelvic girdle muscle weakness 0003749 Proximal amyotrophy Wasting of muscles near the body 0007126 Quadriceps muscle weakness Quadriceps weakness 0003731 Shoulder girdle muscle weakness [rarediseases.info.nih.gov]

An 18-year-old female patient presented weakness of lower limbs two years before. She could not run and climb stairs. Physical examination revealed weakness in feet flexion. The patellar and ankle reflexes were mild. [scielo.br]

Anterior compartment muscles of the distal lower extremities eventually become weak as well. As the disease progresses, patients will develop proximal leg and arm weakness to varying degrees. [orpha.net]

The initial and actual pattern of muscle weakness, the gait, the rate of progression and distribution of the muscle weakness, the presence of cardiorespiratory symptoms and the results of electrocardiogram, thoracic radiography and respiratory function [ap1-dev.uc.pt]

San Donato Milanese, Milan, ItalySearch for more papers by this author First published: November 1996 Citations: 17 Abstract We describe clinical, pathological, and muscle imaging findings in a patient with an early adult‐onset progressive muscular weakness [onlinelibrary.wiley.com]

climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Distal amyotrophy Distal muscle wasting 0003693 Distal muscle weakness Weakness of outermost muscles 0002460 Elevated serum creatine kinase Elevated blood creatine phosphokinase [rarediseases.info.nih.gov]

The Miyoshi myopathy may be distinct among the hereditary distal myopathies. Key words: distal muscular dystrophy, myopathy, Miyoshi myopathy, dysferlin. [scielo.br]

There is currently no cure or definitive treatment for Miyoshi myopathy. [rarediseases.info.nih.gov]

Summary Epidemiology Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founder mutations such as Libyan and Israeli Jewish population, Italian and Spanish populations. [orpha.net]

Muscle biopsy findings showed a severe dystrophic process with no vacuoles, consistent with Miyoshi's myopathy. [onlinelibrary.wiley.com]

Dysferlin deficiency leads to several phenotypes, with Myoshi Myopathy (MM) and Limb Girdle Muscular Dystrohy 2B (LGMD 2B) being the most common ones. [ap1-dev.uc.pt]

[…] and atrophy (wasting), mainly in the distal parts of the legs. 0003738 Pelvic girdle muscle weakness 0003749 Proximal amyotrophy Wasting of muscles near the body 0007126 Quadriceps muscle weakness Quadriceps weakness 0003731 Shoulder girdle muscle weakness [rarediseases.info.nih.gov]

The initial and actual pattern of muscle weakness, the gait, the rate of progression and distribution of the muscle weakness, the presence of cardiorespiratory symptoms and the results of electrocardiogram, thoracic radiography and respiratory function [ap1-dev.uc.pt]

We think that in patients with hereditary distal muscle weakness it is mandatory to perform genetic tests and muscle biopsy with immunohistochemical techniques. REFERENCES 1. Bejaoui K, Hirabayashi K, Hentati F, et al. [scielo.br]

[…] stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Surgical intervention as needed for orthopedic complications such as foot [rarediseases.info.nih.gov]

phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase This leads to abnormalities in the integrity of the muscle fiber membrane and problems with membrane repair. [rarediseases.info.nih.gov]