The phenotype at presentation was identified from the patients' history. [jnnp.bmj.com]

Case presentation: We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia, preferentially of the leg muscles, closely resembling the Miyoshi phenotype. [goedoc.uni-goettingen.de]

In the present family, disease progression was also variable. [neurologyindia.com]

“The patient of the present study reported no family history of Miyoshi myopathy,” the authors wrote. “One clinical manifestation in the present case was the inability to stand on tiptoe on the left foot. [musculardystrophynews.com]

Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

• Difficulty Climbing Stairs

  Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance. [ghr.nlm.nih.gov]

  A milder degree of distal lower limb weakness may be observed and affected individuals usually remain ambulatory for several decades, although they may have difficulty climbing stairs. There is significant interfamilial variability. [egl-eurofins.com]

  Parents or teachers begin to notice the boy having difficulty climbing stairs or keeping up with other children. Blood tests: These are used to measure specific enzymes related to the breakdown of muscle fibers and sugar. [verywell.com]

  Patients showed impaired tiptoe standing, difficulty in climbing stairs, and difficulty walking, but usually remain ambulatory. [mendelian.co]

  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]

• Difficulty Running

  Other characteristics include inability to walk on the toes and difficulty running or walking. Miyoshi myopathy is characterized by muscle weakness and atrophy in young adults, most marked in the distal parts of the legs. [egl-eurofins.com]

  […] climbing stairs Distal amyotrophy Proximal muscle weakness Muscular dystrophy Rimmed vacuoles Gait disturbance Difficulty walking Peripheral neuropathy Skeletal muscle atrophy Difficulty running Lower limb muscle weakness Rare Symptoms - Less than 30% [mendelian.co]

  […] 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]

• Unable to Stand

  He would be unable to stand on tiptoe initially which gradually progressed over a year. He also reported pain and enlargement of calf muscles. [ijpm.info]

  Initially, affected individuals may be unable to stand on their toes. Eventually, muscle weakness spreads to affect the proximal muscles of the upper legs often causing difficulties climbing stairs, standing or walking. [rarediseases.org]

• Disproportionate Short Stature

  Short Stature: Sequencing Panel method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada TAT : contact lab price : contact lab Disproportionate Short Stature: Deletion [genetests.org]

• Shivering

  […] initiated at lower temperature than during wakefulness Is not regulated; no shivering or sweating; temperature drifts toward that of the local environment Sexual arousal Occurs infrequently Greater than NREM Informationto understand sleep for your body [es.slideshare.net]

• Blonde Hair

  Their first child is a baby girl named Daisy Dursley who looks identical to her Aunt Lily when she was Daisy's age with the long wavy hair, angelic face, and bright green eyes, but she has Petunia's blonde hair color. [wattpad.com]

• Foot Deformity

  Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case [books.google.com]

  Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014 ). [mendelian.co]

  […] 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]

• Calf Muscle Discomfort

  Definition A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. [uniprot.org]

  It is a late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. [abcam.com]

• Clumsiness

  Affected individuals may be clumsy with their hands or experience gait abnormalities (e.g., frequent stumbling). The disease will progress to affect additional muscles such as the proximal muscles of the upper legs. [rarediseases.org]

  […] muscle fiber atrophy Fatigable weakness Impaired vibratory sensation Decreased motor nerve conduction velocity Ragged-red muscle fibers Peroneal muscle weakness Progressive proximal muscle weakness Nemaline bodies Neck muscle weakness Muscle stiffness Clumsiness [mendelian.co]

  […] particles Transport of poly(A) mRNA from nucleus to cytoplasm Essential for assembly of ribonucleoprotein granules Tends to assemble into self-seeding fibrils: Exacerbated by disease mutations Recruited to stress granules Clinical 35 Onset Childhood: Clumsy [neuromuscular.wustl.edu]

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. [books.google.com]

It focuses on all subtypes of limb-girdle muscular dystrophy with the goal to find treatments no matter how long it takes! [lgmd-info.org]

Management and treatment No definitive treatments for MM exist and management is mainly supportive. [orpha.net]

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]

Prognosis The prognosis for people with muscular dystrophy varies according to the type and progression of the disorder. [360oandp.com]

[ edit ] Prognosis depends on the individual form of MD. [en.wikipedia.org]

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]

結節性硬化症 Tuberous sclerosis complex （TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]

Degree of muscle weakness can vary from mild to severe and the etiology remains unknown. 3) Finnish distal myophathy : Finnish MD can also be referred to as tibial muscular dystrophy and it features weakness beginning after the age of 40 years old. [steadyhealth.com]

3 Dutch families Gowers (Laing; Early adult onset distal myopathy type III; MPD1) 3, 4 ● Myosin heavy chain 7 (MYH7) ; Chromosome 14q11.2; Dominant or Sporadic Epidemiology Australian, German, Italian & Austrian families Genetics: MYH7 mutations Types [neuromuscular.wustl.edu]

X-linked dystonia-parkinsonism Autosomal recessive limb girdle muscular dystrophy type 2A Synonym(s): (no synonyms) Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology 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]

Involvement of basal ganglia and other subcortical structures appears to be specific in the pathophysiology of OCD comorbid with these illnesses. However, there are no reports of OCD comorbid with dysferlinopathy. [ijpm.info]

Conformational multifactorial aging-related degenerative muscle disease associated with proteasomal and lysosomal inhibition, endoplasmic reticulum stress, and accumulation of amyloid-β42 oligomers and phosphorylated tau Askanas V et al., (Los Angeles, USA) Pathophysiology [em-consulte.com]

Symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness, has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins. [4] Pathophysiology [wikidoc.org]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

Marshfield, WI, USA TAT : 3-4 weeks price : $1,670.00 Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel method(s): ◦ Del/Dup (CNV) PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA TAT : 2- [genetests.org]

Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. [icdlist.com]

Physical therapy to prevent contractures (a condition when an individual with a muscular dystrophy grows and the muscles don't move with the bones and can easily be slowed down and/or make the individual's body straighter by daily physical therapy), orthoses [360oandp.com]

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]