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]

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

• Weakness

  Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]

  Progressive muscle weakness Feeding difficulties in infancy Congenital onset Respiratory distress Respiratory insufficiency Ptosis Generalized hypotonia Proximal muscle weakness in upper limbs Limb-girdle muscle weakness Proximal muscle weakness in lower [mendelian.co]

  The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. [ncbi.nlm.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]

• Difficulty Climbing Stairs

  Difficulty climbing stairs MedGen UID: 68676 •Concept ID: C0239067 • Finding Reduced ability to climb stairs. Distal muscle weakness MedGen UID: 140883 •Concept ID: C0427065 • Finding Reduced strength of the musculature of the distal extremities. [ncbi.nlm.nih.gov]

  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. [medlineplus.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]

• Difficulty Running

  Difficulty running MedGen UID: 108251 •Concept ID: C0560346 • Finding Reduced ability to run. Calf muscle hypertrophy MedGen UID: 335868 •Concept ID: C1843057 • Finding Muscle hypertrophy affecting the calf muscles. [ncbi.nlm.nih.gov]

  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]

• Amyloidosis

  (PMID: 19221801) Pramono ZA … Yee WC (Human genetics 2009) 3 4 22 60 Dysferlin-deficient muscular dystrophy features amyloidosis. [genecards.org]

• Myopathy

  Miyoshi myopathy may be distinct among the hereditary distal myopathies. There are only few reported cases of Miyoshi myopathy in the world literature. In India only 12 cases were reported who had classical features of Miyoshi myopathy. [ruralneuropractice.com]

  Zusammenfassung Introduction: Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. [goedoc.uni-goettingen.de]

  Distal myopathy Other names Distal muscular dystrophy Red depicts the preferentially affected areas in distal myopathy. [en.wikipedia.org]

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

  Some people with Miyoshi myopathy may eventually need wheelchair assistance. Rarely, abnormal heart rhythms (arrhythmias) have developed in people with Miyoshi myopathy. [medlineplus.gov]

• Muscle Weakness

  […] with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An Older Woman with Leg Weakness and Atrophic Muscle Fibers on Biopsy 554 Case 89A A Woman with Muscle Weakness and a Skin Rash 559 Case 90 A Man with Muscle Pains 567 Case [books.google.com]

  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 Bradykinesia Ranula [mendelian.co]

  The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. [ncbi.nlm.nih.gov]

  To review the differential diagnosis of Muscle weakness and stiffness, click here. To review the differential diagnosis of Muscle weakness and Myoglobinuria, click here. [wikidoc.org]

• Muscular Atrophy

  He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. Dr. H. [books.google.com]

  Atrophy, SMA Type 2 Juvenile Spinal Muscular Atrophy, SMA Type 3 Adult Spinal Muscular Atrophy, SMA Type 4 Inflammatory Myopathies: Dermatomyositis Polymyositis Diseases of Peripheral Nerve: Charcot-Marie Tooth Disease DeJerine-Sottas Disease Friedreich's [360oandp.com]

  Diagnosed with spinal muscular atrophy (SMA) when he was 1 year old, Och fondly remembers the time he spent at MDA Summer Camp during his childhood. [quest.mda.org]

  ’s Disease) (MND) (Motor Neurone Disease) Spinal Bulbar Muscle Atrophy (SBMA) (X-Linked SBMA) (Kennedy Disease) Spinal Muscle Atrophy Type 1 (SMA1) (Werdnig-Hoffman Disease) Spinal Muscle Atrophy Type 2 (SMA2) Spinal Muscle Atrophy Type 3 (SMA3) (Kugelberg-Welander [mdqld.org.au]

  Quadriceps muscle atrophy MedGen UID: 870170 •Concept ID: C4024603 • Pathologic Function Muscular atrophy involving the quadriceps muscle. [ncbi.nlm.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]

• Paresis

  All patients with a disease duration ranging from 3 to 10 years (n = 4, 66%) had more pronounced distal–proximal myogenic paresis in the lower extremities and mild paresis in the upper extremities with involvement of m. biceps brachii. [frontiersin.org]

• Apathy

  Range 29 to 61 years External link: Paget disease Skeletal: Lumbar lordosis Dementia (30% to 37%) Onset Mean 52 to 54 years; Range 39 to 62 years Usually after Paget's or Myopathy Frontotemporal Language: Anomia; Aphasia; Mutism Personality change: Apathy [neuromuscular.wustl.edu]

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

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

Food and Drug Administration (FDA) acknowledged the filing over protest of PTC Therapeutics’ new drug application (NDA) for Translarna (ataluren) for the treatment of nonsense mutation Duchenne ... [musculardystrophynews.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]

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]

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]

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]

During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle [clinicaltrials.gov]

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 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]

Relevant External Links for DYSF Genetic Association Database (GAD) DYSF Human Genome Epidemiology (HuGE) Navigator DYSF Atlas of Genetics and Cytogenetics in Oncology and Haematology: DYSF No data available for Genatlas for DYSF Gene Analysis of the [genecards.org]

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]