In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
Ataxia is a medical condition which results in the lack of muscle coordination that usually affects voluntary movements such as walking, eye movements, speech, and the patient’s ability to swallow.
A brief coverage of all IIM, including major junk of #Polymyositis, #Dermatomyositis #InclusionBodyMyositis and other IIM's.
Includes classification, characteristic features of all and specific features of each of them with diagnosing and approach to management.
NB: This presentation is equipped with animations, which might not work on slideshare
MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM
HAVE A LOOK ..AND COMMENT..WITHOUT BIAS..
this presentation briefly discus about muscle and its related disorder. some myopathies which are common are cover here in an approach to provide basis of the same disease and treatment. this ppt is basically from chapter 32 zakazewski.
Ataxia is a medical condition which results in the lack of muscle coordination that usually affects voluntary movements such as walking, eye movements, speech, and the patient’s ability to swallow.
A brief coverage of all IIM, including major junk of #Polymyositis, #Dermatomyositis #InclusionBodyMyositis and other IIM's.
Includes classification, characteristic features of all and specific features of each of them with diagnosing and approach to management.
NB: This presentation is equipped with animations, which might not work on slideshare
MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM
HAVE A LOOK ..AND COMMENT..WITHOUT BIAS..
this presentation briefly discus about muscle and its related disorder. some myopathies which are common are cover here in an approach to provide basis of the same disease and treatment. this ppt is basically from chapter 32 zakazewski.
This Presentation Gives a step by step approach on differential diagnosis of adult neurological cases. Gives a clear insight in understanding better the given topic.
DISCUSSION 1Case 1 Back PainA 42-year-old male reports pain.docxcharlieppalmer35273
DISCUSSION 1
Case 1: Back Pain
A 42-year-old male reports pain in his lower back for the past month. The pain sometimes radiates to his left leg. In determining the cause of the back pain, based on your knowledge of anatomy, what nerve roots might be involved? How would you test for each of them? What other symptoms need to be explored? What are your differential diagnoses for acute low back pain? Consider the possible origins using the Agency for Healthcare Research and Quality (AHRQ) guidelines as a framework. What physical examination will you perform? What special maneuvers will you perform?
Patient Information:
M.S. Age 42 Caucasian Male
S.
CC
: “Lower Back Pain”
HPI
: The patient is a 42-year-old white male who developed lower back pain for 1 month. He states the pain radiates to his left leg. His lower back pain is increased with sitting for long periods of time, states the pain gets better when stands and with some Tylenol. Denies any fever, chills, and sweating.
Current Medications
: Tylenol 200 mg two every 4 to 6 hours as needed for pain.
Allergies:
No known drug, food, or environmental allergies.
PMHx
: None Up to date on all immunizations, received flu shot this year. Last tetanus shot 1 years ago.
PSHx:
none
Soc Hx
: M.S. is a retired plumber who lives alone. He enjoys activity such as walking, bike riding and camping outdoors. Nonsmoker, social drinker 3-4 beers on the weekends, denies illegal drug use.
Personal/Social History:
Patient denies ever smoking cigarette. Denies any recreational drug use.
Fam Hx
: Mother alive, age 72-years-old, breast cancer at age 52 in remission. Father died at age 70 (2yrs ago) – history of CAD, MI age 70 died. Maternal grandmother: Hypertension, breast cancer. Maternal grandfather: Hypertension, BPH, GERD, atrial fibrillation, hyperlipidemia, CHF, AICD. Paternal grandmother: Unknown history
Paternal grandfather: Hypertension, CKD, GERD, BPH, COPD, asthma.
ROS
:
GENERAL: No weight loss. Complaint of lower back pain. No complaint of fever, chills, weakness, fatigue, constipation, bladder, or bowel incontinent.
HEENT: Eyes: No visual loss, blurred vision, double vision or yellow sclerae. Ears, Nose, Throat: No hearing loss, sneezing, congestion, runny nose or sore throat.
SKIN: No rash or itching.
CARDIOVASCULAR: No chest pain, chest pressure or chest discomfort. No palpitations or edema.
RESPIRATORY: No Complaint of sob, no cough.
GASTROINTESTINAL: No anorexia, nausea, vomiting or diarrhea. No abdominal pain or bowel incontinent, no rectal pain or bleeding
GENITOURINARY: No difficulty with urination, no urinary leakage or incontinence.
NEUROLOGICAL: No headache, no dizziness, no syncope, no paralysis, no ataxia, no numbness or tingling in the extremities. No change in bowel or bladder control.
MUSCULOSKELETAL: complaints of lower back pain radiate to back of right leg. Pain 8/10, sometimes increase pain when turning in bed, walks with limp when having pai.
Pediatrics notes about "Floppy infant". These notes were published in 2018.
You can download them also from
- Telegram: https://t.me/pediatric_notes_2018
- Mediafire: http://www.mediafire.com/folder/u5u60m184t9z7/Pediatric_Notes_2018
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
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We specializes in exporting high quality Research chemical, medical intermediate, Pharmaceutical chemicals and so on. Products are exported to USA, Canada, France, Korea, Japan,Russia, Southeast Asia and other countries.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
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NYSORA Guideline
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New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
1. NEUROMUSCULAR
DISORDERS
P R E PA R E D A N D P R E S E N T E D B Y
• IBRAHIM H. TAWHARI.
• MOHAMMED I. ALHEFZI.
• ABDULLAH H. AL-ASMRI.
• YAHYA M. ABUTALIB.
S
2.
3.
4. S ID / CC:
SCENARIO - HISTORY
S A 4-months-old infant.
S Presenting with weak arms & limbs.
S HPI:
S A 4-months infant has been brought by his
mother.
S The mother states that she noted a
generalized weakness of her baby.
S She states that her baby has is unable to lift
his head off the pillow.
S When picked up, his head falls back as his
neck is weak.
S He feeds from a bottle and takes a long time.
His sucking is weak and slow.
5. S HPI CONTD.:
SCENARIO - HISTORY
S He has weakness in his limbs.
S On further questioning, the mother states that
he was always alert with good eye contact.
S He began smiling by 6 weeks of age
recognized his parents.
S He turns her head and eyes toward sounds
and begun to coo a little.
S DEVELOPMENTAL HX.:
S As above.
S PAST HX.:
S As above.
S He got chest infection last month.
6. SCENARIO - HISTORY
S DRUG HX.:
S NAD.
S FAMILY HX.:
S He is the the 2nd child.
S He has only one older sister and she is
healthy.
S PREGNANCY HX.:
S The mother was healthy during pregnancy
and had no complications.
S She was not using any drugs and didn’t
expose to radiation.
S This was her 2nd pregnancy and she noted
that fetal movement was less than her first
pregnancy.
7. SCENARIO - HISTORY
S NEONATAL HX.:
S GA: full term.
S Birth weight: 2.7 Kg.
S Weak crying.
S No admission.
S IMMUNIZATION HX.:
S He received all vaccines up to date as
scheduled.
8. S GENERAL & VITAL SIGNS:
S No facial dysmorfic.
S Afebrile.
SCENARIO - PE
S Tachycardia & tachypnea.
S Subcostal retraction.
S Lung: Clear.
S Abdomen: normal.
S CNS:
S Mental status:
S Alert, smiles and interacts with mother.
S CRANIAL NERVES:
S Normal.
9. S MOTOR:
S Wasting and decreased muscle tone in axial
and limb muscles.
SCENARIO - PE
S Head lag when pulled from supine to prone
position.
S When supine, frog-leg position.
S Tongue fasciculation.
10. S LAB WORK;
SCENARIO – LAB INV.
S CBC:
S Normal.
S ELECTROLYTES:
S Normal.
S CPK:
S 250 IU/mL. “mild elevation”.
S MUSCLE BX;
S Confirmed.
S Spinal Muscular Atrophy.
S “Werding Hoffmann’s Disease”.
24. SPINAL MUSCULAR ATROPHY
S Degenerative disease of the anterior horn
cells of the spinal cord & Cranial Nerve
Nuclei in the brainstem.
S Wasting & Weakness.
25. SPINAL MUSCULAR ATROPHY
S Autosomal Recessive
(chromosome 5q11.2-13.3).
S Progressive.
S Incidence:- 1:10,000 of live birth.
27. SPINAL MUSCULAR ATROPHY
S CLINICAL PICTURE;
S Generalized weakness.
S Severe hypotonia.
S Proximal & distal muscles of limbs.
S Intercostal muscles..., & Chest deformity…
S Bulbar muscles.
S Absent deep tondon reflexes
S Hx. of fetal movement in utero.
S Breathing difficulty Paradoxical
Respiration.
S Feeding difficulty.
S Floppy infant.
S Frequent severe respiratory tract infections.
S IQ??
S Normal.
28. • Lack of head support.
• Hypotonia.
• Frog leg posture.
• Tongue Fasciculation.
30. S CK
S Normal or Mildly increased.
S NERVE CONDUCTION
INVESTIGATIONS
S Normal intelligence.
S EMG
S Evidence of denervation (Fibrillated
Potential).
S MUSCLE BX
S GENETIC DETECTION
31. S SUPPORTIVE CARE
S As no treatment can stop or delay the
progression.
MANAGEMENT
Power Wheelchair. Mechanical Ventilation.
S NEW MODALITIES?
S Stem Cells?!
36. GUILLIAN-BARRÈ SYNDROME
S Inflammatory disorder of the peripheral nerves
S Weakness and tingling.
S > +1 limb.
S Symmetric.
S Legs > Trunk > Arms > Neck > Face.
S Progressive.
S Severe (medical emergency requiring
hospitalization)
S Preceded by infections.
S URTI
S GI
S 1 - 3 wks.
S Incidence: 1-2 per 100,000.
S Males > Females (1.5:1).
37. GUILLIAN-BARRÈ SYNDROME
S CAUSES;
S Unknown.
S AI destruction of myelin and/or axons.
S Precedes by Infections.
S Affects signals;
S Weakness.
S Numbness.
S Paralysis.
38. GUILLIAN-BARRÈ SYNDROME
S WHO IS AT RISK?
S Young/Older Adults.
S Triggers;
S Campylobacter infection. "esp. poultry"
S Mycoplasma pneumonia.
S Surgery.
S Epstein-Barr virus.
S Influenza virus.
S Hodgkin's disease.
S Mononucleosis.
S HIV.
39. GUILLIAN-BARRÈ SYNDROME
S CLINICAL PICTURE;
S MOST SIGNIFICANTLY WITHIN 4 WEEKS.
S Muscle weakness. (Ascending).
S Aching pain.
S Shoulders, thighs, lumbar region.
S Dysphagia, Dysarthria, Facial
weakness, Ophthalmoplegia.
S MINIMAL loss of sensation (on exam).
S Decreased or absent tendon reflexes.
40. S COMPLICATIONS;
GUILLIAN-BARRÈ SYNDROME
S Breathing.
S CVS.
S Pain.
S Bowel/Bladder Dysfunctions.
S Blood clots.
S Pressure sores.
S Relapse.
S "10%"
S Death.
S (RDS, Heart Block). [Rare]
41. GUILLIAN-BARRÈ SYNDROME
S INVESTIGATIONS;
S CSF (LP).
S Elevated Protein, normal cell count. (1wk)
S EMG.
S Demyelination? Axonal?
S Nerve Bx. (If other fails).
S Sural Nerve.
S ECG.
S Arrhythmias?
S Other Investigations according to the cause.
42. GUILLIAN-BARRÈ SYNDROME
S MANAGEMENT;
S I.V. Ig.
S Plasmapheresis.
S Paralyzed Patients.
S Anticoagulants. (Prevent TE).
S Electively;
S ET Intubation.
S Tracehostomy.
S Mechanical Ventilation.
S Nutritional Support.
44. S AD.
CHARCOT-MARIE-TOOTH
S Both genders affected equally.
S CMTX affects males.
S Prevalence: at least 1 in 2.500.
S Age of onset varies (first 2 decades of life).
S Caused by gene mutations.
S Inherited (Familial).
S Less commonly De Novo (Sporadic).
45. S CLINICAL PICTURE;
CHARCOT-MARIE-TOOTH
S Weakness; legs, ankles and feet.
S Loss of muscle bulk.
S Hand weakness.
S Difficulty in running.
S Foot deformity (Pes Cavus).
S Hammertoes.
S Diminished or absent deep tendon reflexes.
S Steppage gait.
S Usually (+ve) Romberg's Test.
S Generally NO PAIN.
47. S INVESTIGATIONS;
CHARCOT-MARIE-TOOTH
S EMG.
S Genetic Testing.
S Nerve Bx.
48. S MANAGEMENT;
CHARCOT-MARIE-TOOTH
S No Cure. (Supportive).
S Medications.
S (If Pain) from muscle cramps.
S Therapy;
S Physical therapy.
S Occupational therapy.
S Orthopedic devices. (leg/ankle braces)
S Surgery
S Severe cases.
S Not weakness/loss of sensations
58. MYASTHENIA GRAVIS
S Myasthenia Gravis is often associated with:
S Hashimoto thyroiditis.
S Some collagen vascular diseases.
S Thymoma (mostly with adults; rarely in
children).
S Post-infectious myasthenia:
S Affects children.
S Follows infection with varicella zoster.
S Transient.
59. S CLINICAL PICTURE;
MYASTHENIA GRAVIS
CLINICAL PICTURE
S Ptosis and extra ocular muscle weakness:
S The earliest & most consistent finding.
S Dysphagia.
S Facial weakness.
S Feeding difficulties.
S Poor head control.
S Weakness of limb girdle.
S Weakness of hands & feet muscles.
S Rapid muscle fatigue (profound late in day & when
tired)
S Fasciculation and sensory symptoms DO NOT
occur.
S Tendon reflexes may be diminished.
60. S DIAGNOSTIC STUDIES;
S EMG.
MYASTHENIA GRAVIS
S More diagnostic than Bx.
DIAGNOSIS
Normal. MG.
S Anti-Ach Abs.
S Tensilon test (Edrophonium Test)
S Ptosis and ophthalmoplegia improve within a few
seconds, and fatigability of other muscles decreases.
61. S TREATMENT;
MYASTHENIA GRAVIS
S NO TREATMENT.
S For Mild and transient MG.
TREATMENT
S Cholinesterase inhibitors.
S Neostigmine.
S Physostigmine
S Steroids.
S I.V. Ig
S Plasmapheresis
62. S Thymectomy.
MYASTHENIA GRAVIS
S If high Ab titer.
S Duration of symptoms < 2 years.
TREATMENT
S Neonates with transient maternally transmitted
MG require cholinesterase inhibitors for only a
few days or occasionally for a few
weeks, especially to allow feeding.
63. S AVOID:
MYASTHENIA GRAVIS
S Neuromuscular blocking agents.
CAUTIONS
S Aminoglycosides.
67. DUCHENN MUSCULAR
DYSTROPHY
“Pseudohypertrophic Muscle Dystrophy”
S
68. S An X-linked recessive (locus Xp2.1).
DUCHENN MUSCULAR
DYSTROPHY
S Results from deficiency of dystrophin
protein.
S Onset: 3-5 years of age.
S Incidence:- 1:3600 male.
S Males > Females.
70. Dystrophin
Protein
• It anchors the contractile
muscle filaments to the
surrounding membrane of
muscle cells.
71. When dystrophin is defective,
two things happen:
1. Muscles cannot contract
normally, which leads to
weakness.
2. As a muscle cell contracts, its
delicate membrane tears,
spilling the contents of the
cell (e.g., CK, myoglobin) into
the surrounding fluid.
• Dead muscle cells are
replaced by fat tissue &
fibrous scars
• → Pseudohyphertrophy
72. DUCHENN MUSCULAR
DYSTROPHY
• Affects axial and
proximal muscles more
than distal muscles.
• Affects skeletal, smooth
and cardiac muscles, and
brain.
73. S CLINICAL PICTURE;
DUCHENN MUSCULAR DYSTROPHY
S Hypotonia.
CLINICAL PICTURE
S Fatigability.
S Difficulty in standing & walking.
S Psedohypertrophy of calf & deltoid.
S Toe walking.
S Deformity of spine.
S Cardiomyopathy.
S Low IQ.
75. DUCHENN MUSCULAR DYSTROPHY
S PROGRESSIVE COURSE;
S Gower sign: 3years.
S Arm weakness: 6years.
CLINICAL PICTURE
S Wheelchair: 12 years.
S Poor cough & respiratory difficulty: 16 years.
S Death is mainly due to respiratory failure.
76. DUCHENN MUSCULAR DYSTROPHY
S CK;
S Greatly ↑↑↑
INVESTIGATIONS
S MUSCLE BX;
S Necrosis, fat cells & fibrous tissue.
S CT BRAIN;
S Brain atrophy.
79. S SIMILAR TO DUCHENN MUSCULAR DYSTROPY.
BECKER MUSCULAR
S X-LINKED RECESSIVE.
DYSTROPHY
S SOME DYSTROPHIN IS PRESENT BUT IS ABNORMAL.
S MILDER.
S SLOWLY PROGRESSIVE.
S CALLED: BENIGN PSEUDOHYPERTROPHY.
80. COMPARISON
------------------------- DUCHENN BECKER
ONSET 3 - 5 years 5 - 15 yeas
LIFE EXPECTANCY Teens 30s – 50s
MENTAL RETARDATION Common Uncommon
DYSTROPHIN Markedly ↓↓↓↓ May be normal; but the
or even ABSENT protein itself is abnormal.
81. PRESENTED AS FULFILLMENT OF PEDIA II COURSE.
WISH YOU ALL THE BEST; FROM: I. TAWHARI, M. ALHEFZI, A. AL-ASMRI, Y. ABUTALIB