Presentation
At the first clinical examination, all patients were able to walk without support and presently nine became wheelchair-bound and three needed walking assistance (mean time to loss of autonomous walk of 17 9 years). [ap1-dev.uc.pt]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
The tendon reflexes were present and symmetric. The CK was 2850U/l, aldalose 273U/l, LDH 747U/l. The EMG showed a myopathic pattern. [scielo.br]
Entire Body System
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Weakness
[…] 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]
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Difficulty Climbing Stairs
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]
Musculoskeletal
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Myopathy
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]
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Muscle Weakness
[…] 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]
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Foot Deformity
[…] 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]
Workup
Serum
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Creatine Phosphokinase Increased
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]
Treatment
Management and treatment No definitive treatments for MM exist and management is mainly supportive. [orpha.net]
There is currently no cure or definitive treatment for Miyoshi myopathy. [rarediseases.info.nih.gov]
Ataluren treatment of patients with nonsense mutation dystrophinopathy. [fundacionisabelgemio.com]
The technique would permits a less invasive, faster and cheaper diagnosis and allows to quantify dysferlin levels when new treatments would be tested9. The high levels of CK in MM is due to great muscular lesion. [scielo.br]
Prognosis
Prognosis Progression is variable with some patients remaining fairly stable with distal weakness, while others can have a more aggressive pattern involving both proximal and distal muscles. [orpha.net]
Etiology
Etiology MM is caused by mutations in the DYSF gene (2p13), which encodes dysferlin. The latter orchestrates skeletal muscle membrane repair and has also been associated with myogenesis, angiogenesis and microtubule dynamics. [orpha.net]
Epidemiology
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]
Prevention
Management depend on the specific signs and symptoms, and is aimed to prolong survival and improve quality of life:.[1] Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers [rarediseases.info.nih.gov]