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]

Here we present the crystal structure of titin's only catalytic domain, an autoregulated serine kinase (titin kinase). The structure shows how the active site is inhibited by a tyrosine of the kinase domain. [scienceopen.com]

Abstract We present an overview of autosomal recessive distal muscular dystrophy (ARDMD), including recent molecular genetic findings. ARDMD is often referred to as Miyoshi-type distal muscular dystrophy (MDMD) or Miyoshi myopathy (MM). [pubmed.ncbi.nlm.nih.gov]

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]

• 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]

• Foot Deformity

  deformity and scoliosis Use of respiratory aids when indicated Social and emotional support Because dysferlinopathies are progressive conditions, rehabilitative interventions should be focused on slowing down the of muscle weakness and wasting progression [rarediseases.info.nih.gov]

• Creatine Phosphokinase Increased

  […] kinase Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine [rarediseases.info.nih.gov]

It was applied comprehensive rehabilitation treatment with specific objectives. Conclusions: After 30 treatment sessions, the objectives were achieved with a satisfactory evolution. [scienceopen.com]

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]

Muscle Nerve. 2013 Sep;48(3):357-68. http://doi.wiley.com/10.1002/mus.23905 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 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 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]

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]

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]