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Distal Myopathy Type Tateyama

MPDT


Presentation

  • Acronym MPDT Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.com]
  • , such asin the present cases.[docslide.com.br]
  • The case indicated by the arrow represents the present case of DACM.[dokumen.tips]
  • HCM is present in approximately 20% to 30% of individuals affected with NS.[mayomedicallaboratories.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.de]
  • People with CAV3-related distal myopathy experience wasting ( atrophy ) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood.[familydiagnosis.com]
  • Format Definition A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet.[uniprot.org]
  • […] group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness[ncbi.nlm.nih.gov]
  • More on Distal myopathy » CAV3-related distal myopathy : CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the 4 ... ...[familydiagnosis.com]
Physician
  • Valuable insights into the muscular dystrophies, including treatment, diagnosis, and care and patient management A comprehensive compilation of the combined wisdom of the most highly regarded physicians, experts, and scientists studying the muscular dystrophies[books.google.com]
  • Affected mem-bers of the family (III-1, IV-2, IV-5, and IV-9) wereexamined by the same physician (S.H., T.T., orA.M.).We tested for the presence of the dysferlin mu-tation in the patients using the single-strand confor-mation polymorphism technique and[dokumen.tips]
  • Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Association for Physician[emedicine.medscape.com]
Short Stature
  • Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability 616 Case 101 A Woman with Focal Spontaneous Muscle Movements 620 Index[books.google.de]
  • Noonan syndrome (NS) is an autosomal dominant disorder of variable expressivity characterized by short stature, congenital heart defects, and characteristic facial dysmorphology.[mayomedicallaboratories.com]
  • Bardet-Biedl syndrome 11 615988 602290 Autosomal recessive TRIM32 9q33.1 Muscular dystrophy, limb-girdle, type 2H 254110 602290 Autosomal recessive TRIM37 17q22 Mulibrey nanism 253250 605073 Autosomal recessive TRMT10A 4q23 Microcephaly, short stature[mnglabs.com]
Swelling
  • Muscle Weakness 497 Case 79 A Boy Born Floppy with Severe Weakness and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling[books.google.de]
  • […] features of DACM andwhose pedigree included two other types of dysferli-nopathy.CASE REPORTSA 42-year-old man (Fig. 1, IV-9, arrow), who hadbeen noted to stumble frequently at 15 years of age,subsequently developed a gait disturbance with tran-sient swelling[dokumen.tips]
Congestive Heart Failure
  • Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with[books.google.de]
  • Clinical presentation is highly variable, ranging from no symptoms to congestive heart failure and life-threatening arrhythmias. An increased risk of thromboembolic events is also present with LVNC. Approximately 67% of LVNC is considered familial.[mayomedicallaboratories.com]
Diplopia
  • An Older Woman with Progressive Muscle Weakness 572 Case 92 An HIVInfected Man with Muscle Weakness and Spasms 577 Case 93 A Woman with Limb Swelling and Pain 581 Case 94 A Man with a Bent Spine 584 Case 95 A Man with Muscle Stiffness and Later with Diplopia[books.google.de]
Proximal Muscle Weakness
  • Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An[books.google.de]
  • muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise.[ncbi.nlm.nih.gov]
  • weakness DES myofibrillar myopathy 1 variable (childhood to adulthood) variable— cardiomyopathy or distal and/or proximal muscle weakness DNAJB6 DNAJB6-distal myopathy, myofibrillar myopathy variable (childhood to adulthood) distal and/or proximal muscle[invitae.com]
  • Basically, the calf muscles are affected at the initial stage in MM, but LGMD2B begins with proximal muscle weakness.[bioline.org.br]
Calf Hypertrophy
  • hypertrophy, positive Gower sign, and variable muscle cramps after exercise.[ncbi.nlm.nih.gov]
  • Hypertrophy Heel Contractures and Elevated Serum Creatine Kinase 480 Case 76 A Young Man with Distal Leg Wasting and Normal Sensation 484 Case 77 A Woman with Droopy Eyelids and Difficulty Swallowing 493 Case 78 A Man with Facial and Shoulder Muscle[books.google.de]
  • LGMD1C is a myopathy characterized by calf hypertrophy and mild to moderate proximal muscle weakness. LGMD1C inheritance can be autosomal dominant or recessive. Defects in CAV3 are a cause of hyperCKmia (HYPCK).[mybiosource.com]
Muscle Cramp
  • Cramps and Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness[books.google.de]
  • It is clinically characterized by mild to moderate muscle weakness, either distal or proximal, and exercise-induced muscle cramps. Caveolinopathy includes a series of different phenotypes (Table 7.2).[link.springer.com]
  • cramps Aniridia, cerebellar ataxia, and mental retardation Anophthalmia/Microphthalmia Aortic aneurysm, familial thoracic 4 Aortic aneurysm, familial thoracic 6 Aortic aneurysm, familial thoracic 7 Argininosuccinate lyase deficiency Arrhythmogenic right[pentacorelab.hu]
Arthritis
  • 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 Woman with Foot Drop and Hand Weakness 393 Case 62 A Woman with Rheumatoid Arthritis[books.google.de]
  • Arthritis Rheum. 2002 Jul. 46(7):1885-93. [Medline]. Lotz BP, Engel AG, Nishino H, et al. Inclusion body myositis. Observations in 40 patients. Brain. 1989 Jun. 112 (Pt 3):727-47. [Medline]. Lindberg C, Persson LI, Bjorkander J, Oldfors A.[emedicine.medscape.com]
  • Arthritis Rheum. 2007 Nov; 56(11):3784-92.[connects.catalyst.harvard.edu]
  • Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 614736 607878 Autosomal recessive NOD2 16q12.1 Blau syndrome 186580 605956 Autosomal dominant NOD2 16q12.1 {Yao syndrome} 617321 605956 Multifactorial NOD2 16q12.1 {Psoriatic arthritis[mnglabs.com]
Myalgia
  • […] limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis.We report the case of a 59-year-old Caucasian man with distal myopathy and exercise-induced myalgia[sparrho.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.[jmedicalcasereports.biomedcentral.com]
Dark Urine
  • […] and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot 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[books.google.de]
Peripheral Neuropathy
  • Neuropathy 405 Case 64 A Man with a Neuropathy Weight Loss and Lung Nodules 411 Case 65 A Woman with Difficulty Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive[books.google.de]
  • , partial, with minifascicular neuropathy Achalasia addisonianism alacrimia syndrome Acrocallosal syndrome Acyl-CoA peroxisomal oxidase deficiency Adrenoleukodystrophy Adrenoleukodystrophy / Adrenomyeloneuropathy Agenesis of the corpus callosum with peripheral[qlinics.com]
  • Hermanns B, Molnar M, Schröder JM (2000) Peripheral neuropathy associated with hereditary and sporadic inclusion body myositis: confirmation by electron microscopy and morphometry. J Neurol Sci 179: 92–102 PubMed CrossRef Google Scholar 65.[link.springer.com]
  • Peripheral neuropathy associated with hereditary and sporadic inclusion body myositis: confirmation by electron microscopy and morphometry. J Neurol Sci. 2000 Oct 1. 179(S 1-2):92-102. [Medline].[emedicine.medscape.com]
Areflexia
  • 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.de]
  • , respiratory distress, and dysphagia, early-onset, 614399 MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 DNM2 Myopathy, centronuclear, 160150 MYF6 Myopathy, centronuclear, 3, 614408 CCDC78 Myopathy,[gsdseq.ir]
  • […] dystonia, DRD2 related Myoclonic epilepsy of Lafora Myoclonus, familial cortical Myoglobinuria acute recurrent Myopathy due to Integrin 7A deficiency Myopathy due to myoadenylate deaminase deficiency Myopathy with fiber-type disproportion Myopathy, areflexia[qlinics.com]
Irritability
  • Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle).[ncbi.nlm.nih.gov]
  • Fasciculations 594 Case 97 A Man with Large and Stiff Muscles 601 Case 98 A Boy with Short Stature Small Jaw Muscle Hypertrophy and Stiffness 609 Case 99 An Elderly Woman with Muscle Spasms 612 Case 100 A Woman with Proximal Muscle Weakness and Neuromuscular Irritability[books.google.de]
Foot Drop
  • 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.de]
  • drop-induced gait difficulties LDB3 myofibrillar myopathy-4 adulthood slowly progressive distal and/or proximal muscle weakness MATR3 distal myopathy-2 adulthood distal lower limb muscle weakness MYH7 Laing distal myopathy variable (infantile to late[invitae.com]
Paresis
  • Epilepsy, X-linked, with learning disabilities and behavior disorders Epileptic encephalopathy, childhood-onset Epileptic encephalopathy, Lennox-Gastaut type Episodic ataxia Episodic pain syndrome Erythermalgia, primary Ethylmalonic encephalopathy Facial paresis[qlinics.com]
  • Inclusion body myositis presenting with isolated erector spinae paresis. Neurology. 1995 May. 45(5):993-4. [Medline]. Kraemer P, Sagui E, Brosset C, et al. [Inclusion myositis associated with primary biliary cirrhosis of the liver].[emedicine.medscape.com]
  • […] disease, recessive intermediate, A 608340 606598 Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, type 2K 607831 606598 Autosomal dominant; Autosomal recessive GDAP1 8q21.11 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis[mnglabs.com]

Workup

Hypercholesterolemia
  • Sotos syndrome 3 617169 612034 Autosomal recessive APOA1 11q23.3 Amyloidosis, 3 or more types 105200 107680 Autosomal dominant APOA1 11q23.3 Hypoalphalipoproteinemia 604091 107680 APOA2 1q23.3 {Hypercholesterolemia, familial, modifier of} 143890 107670[mnglabs.com]
Slow Nerve Conduction Velocities
  • 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.de]
  • nerve conduction velocity, autosomanal dominant Smith-Magenis syndrome Smith-Magenis syndrome, ULK2 related Spastic ataxia Charlevoix-Saguenay Spastic ataxia type 1, autosomal dominant Spastic ataxia type 2, autosomal recessive Spastic paralysis, infantile[qlinics.com]
  • Slowed nerve conduction velocity, AD 608236 608136 Autosomal dominant ARHGEF6 Xq26.3 Mental retardation, X-linked 46 300436 300267 X-linked recessive ARHGEF9 Xq11.1 Epileptic encephalopathy, early infantile, 8 300607 300429 X-linked recessive ARID1A 1p36.11[mnglabs.com]

Treatment

  • Amato Elsevier, 2011/05/24 - 284 ページ The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.de]
  • Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial . Orphanet J. Rare Dis. 8 , 26 (2013). 81. Burch, P. M. et al .[nature.com]
  • Treatment of inclusion-body myositis with high-dose intravenous immunoglobulin. Neurology. 1993 May. 43(5):876-9. [Medline]. Amato AA, Barohn RJ, Jackson CE, et al. Inclusion body myositis: treatment with intravenous immunoglobulin.[emedicine.medscape.com]

Prognosis

  • […] body myopathies (h-IBM) encompass a group of disorders sharing the common pathological finding of vacuoles and filamentous inclusions. [1] They collectively demonstrate a wide variation in clinical expression, age of onset, associated diseases, and prognosis[emedicine.medscape.com]

Etiology

  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics . Ann. Neurol. 71 , 141–145 (2012). 13. Hedberg, C. , Melberg, A. , Kuhl, A. , Jenne, D. & Oldfors, A.[nature.com]
  • Nevertheless, the present results suggest that mutations in hnRNPA1 , and possibly hnRNPA2B1 , will be identified in patients with a pure muscular phenotype specifically presenting etiology-unknown IBM, as was the case with hnRNP-associated genes reported[ng.neurology.org]
  • […] transcripts of B and plasma cells isolated from s-IBM muscle showed evidence of clonal expansion and variation, isotype switching, and somatic hypermutation, indicative of a local antigen-driven humoral response. [20] Additional evidence for a primary immune etiology[emedicine.medscape.com]

Epidemiology

  • Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology. 2000 Nov 14. 55(9):1385-7. [Medline]. Phillips BA, Zilko PJ, Mastaglia FL. Prevalence of sporadic inclusion body myositis in Western Australia.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive.[mybiosource.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cardiomyopathies are a group of disorders characterized by disease of the heart muscle.[mayomedicallaboratories.com]
  • Pathophysiology s-IBM has been traditionally classified as one of the idiopathic inflammatory myopathies along with dermatomyositis (DM) and polymyositis (PM).[emedicine.medscape.com]

Prevention

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]
  • The main goal of treatment of arrhythmogenic right ventricular dysplasia/cardiomyopathy is the prevention of sudden cardiac death. Implantable cardioverter defibrillator (ICD) is the only proven "lifesaving" therapy.[centogene.com]
  • Kataoka H, Sawa N, Sugie K, Ueno S Journal of the neurological sciences 347(1-2) 361-363 Dec 2014 [Refereed] Preoperative low-dose steroid can prevent respiratory insufficiency after thymectomy in generalized myasthenia gravis.[researchmap.jp]
  • Recent reports uncovered a direct interaction among hnRNPA1, hnRNPA2B1, and TDP-43. 28 They have also suggested the essential role of VCP/p97 in the autophagic clearance of excess assembly of nontranslating messenger ribonucleoprotein complexes to prevent[ng.neurology.org]

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