The document discusses various types of muscular dystrophies that can present in childhood, including Duchenne Muscular Dystrophy. It describes DMD as the most common and severe dystrophy characterized by progressive muscle deterioration and death typically by age 18. DMD is inherited in an X-linked recessive pattern and results from mutations in the dystrophin gene on the X chromosome that prevent normal dystrophin protein production. Symptoms begin in early childhood and include difficulty walking and increased calf size, with loss of walking ability by age 12 and eventual respiratory or cardiac failure. While there is no cure, treatment focuses on rehabilitation, bracing, respiratory support, and medications to slow disease progression.
A short presentation in Genetics about Duchenne Muscular Dystrophy. The presentation includes its signs, symptoms, the life expectancy of a patient, and its management.
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
A short presentation in Genetics about Duchenne Muscular Dystrophy. The presentation includes its signs, symptoms, the life expectancy of a patient, and its management.
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
What is Muscular Dystrophy?
Types of Muscular Dystrophy
What is Duchenne muscular dystrophy (DMD), pathophysiology, clinical presentation, Gowers sign, DMD and Becker's muscular dystrophy and functional grades
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
What is Muscular Dystrophy?
Types of Muscular Dystrophy
What is Duchenne muscular dystrophy (DMD), pathophysiology, clinical presentation, Gowers sign, DMD and Becker's muscular dystrophy and functional grades
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person's ability to control his or her muscles.
Dear Readers
Its ppt of Musculoskeletal disorder as mentioned in Bsc Nursing 2nd year curriculum. i hope it will help all nursing students for knowledge seek.
Thank u so much
It is the group of incurable muscle disorders characterized by progressive weakening and wasting of the skeletal or voluntary muscles.
The pathologic features include degeneration and loss of muscle fibers, variation in muscles fibers size, phagocytosis and regeneration and replacement of muscle tissue by connective tissue.
The common characteristics of MD elevation of muscles enzyme.
This powerpoint i talked about the types classification of the Muscular disorder , followed by Duchenne Muscular dystrophy Clinical features, pathophysiology, Diagnosis , followed by the latest treatment available for its treatment.
Duchenne muscular dystrophy is serious and the most common form of muscular dystrophy. It is invariably fatal. Until recently, there was little hope that the widespread muscle degeneration that accompanies this disease could be combated. Ayurvedic Rasayana treatment now offers that hope. Ayurvedic Rasayana molecules viz. Curcumin, Mamsagni, and Sukumar Guggul Rasayana are efficient to stop further deterioration of muscles due DMD. The medicines blocks nuclear k-factor and will help delay the muscle degeneration. Rasayana medicines do not alter the patient’s genetic code or introduce genetic materials into the body. These safe and natural medicines are developed and being clinically used by AMDS India for Care through Ayurveda research project since 1995. Questions & comments to Dr Mukesh D Jain mjainbhilai@gmail.com
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
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
4. Dr Alpana SK, www.peditips.com
What is muscular dystrophy?
Increasing weakness and loss of muscle
mass and function until the patient is
confined to a wheelchair
A problem with the synthesis of proteins in
the muscle fibers causes deterioration
Four forms of the disease are recognized,
based on:
Pattern of inheritance
Age when symptoms are first noted
Distribution of the muscles first involved
5. Dystrophinopathy: disorders involving
dystrophin
Duchenne MD and Becker MD are the
muscular disorders – the two most common
and severe dystrophies
Dystrophin is a very large gene on the X-
chromosome, ubiquitous in the human body
Dystrophin-Associated Protein (DAP) Complex
– composed of the extracellular,
transmembrane, and intracellular components
6. Dr Alpana SK, www.peditips.com
Classification of types of MD
Heritable MDs include the following:
Sex-linked MDs
Duchenne
Becker
Emery-Dreifuss
Autosomal dominant MDs
Facioscapulohumeral
Distal
Ocular
Oculopharyngeal
Autosomal recessive MD –
limb-girdle form
8. Dr Alpana SK, www.peditips.com
What is Duchenne’s Muscular
Dystrophy?
The disease is characterized
Early onset often before school years
By progressive muscular deterioration and
death by 14 to 18 years of age
A defect of a large gene on the X
9. Dr Alpana SK, www.peditips.com
Prevalence of DMD
Affects one in
3500 to 5000
newborn males
1/3 of these with
previous family
history.
2/3 sporadic
10. Dr Alpana SK, www.peditips.com
What is the pattern of
inheritance?
X-linked recessive inheritance
11. Dr Alpana SK, www.peditips.com
Duchenne Muscular Dystrophy
Inheritance.
Mother carries the recessive gene and
passes it to her child
Trait is usually expressed in
males only
12. Dr Alpana SK, www.peditips.com
The gene for dystrophin
production sits on the X
chromosome.
Dystrophin is a cytosolic
protein associated with
the external membrane
of skeletal, cardiac and
smooth muscle cells and
of some neurons
If a normal gene for
dystrophin is present,
then the protein will be
made.
If the gene is missing
or altered, dystrophin
may not be produced at
all or only in abnormal
forms, resulting in
Duchenne muscular
dystrophy
Xp21 band is
responsible for
dystrophin
production
15. Dr Alpana SK, www.peditips.com
In Duchenne muscular dystrophy (DMD) patients with a deletion of exons 45–54, an
out-of-frame transcript is generated in which exon 44 is spliced to exon 55. Owing
to the frame shift, a stop codon occurs in exon 55, which prematurely aborts
dystrophin synthesis. b | Using an exon-internal antisense oligonucleotide (AON) in
exon 44, the skipping of this exon can be induced in cultured muscle cells.
Accordingly, the transcript is back in-frame and a Becker muscular dystrophy
(BMD)-like dystrophin can be synthesized
18. Dr Alpana SK, www.peditips.com
In the Duchenne muscular dystrophy, the attachment of muscle fibers
to their surrounding endomysium (extracellular matrix) becomes
weakened due to mutations in the dystrophin gene.
(Image courtesy of the National Cancer Institute)
19. Dr Alpana SK, www.peditips.com
What are the symptoms?
difficulty in walking at about the age
of four years
increased size in calf muscles
Loss of the ability to walk at about
the age of 11
Death at about the age of 18 or later,
usually because of respiratory failure.
21. Dr Alpana SK, www.peditips.com
Symptoms of DMD
Awkward gait (patients tend to walk on their forefeet, because of an
increased calve tonus)
Frequent falls
Progressive difficulty walking , Eventual loss of ability to walk (usually
by the age of 12)
Difficulty with motor skills (running, hopping, jumping)
Fatigue
Higher risk of behaviour and learning difficulties.
Skeletal deformities (including scoliosis in some cases)
Muscle deformities of tongue and calf muscles. The enlarged muscle
tissue is eventually replaced by fat and connective tissue, hence the
term pseudohypertrophy.
of heels and legs, rendering them unusable because the muscle
fibers shorten and fibrosis occurs in connective tissue
23. Dr Alpana SK, www.peditips.com
Posture changes during progression of Duchenne muscular
dystrophy.
24. Dr Alpana SK, www.peditips.com
Possible Complications
Deformities
Permanent, progressive disability
Decreased mobility
Decreased ability for self-care
Mental impairment (varies, usually minimal)
Pneumonia or other respiratory infections
Respiratory failure
Cardiomyopathy
Congestive heart failure (rare)
Heart arrhythmias (rare)
25. Dr Alpana SK, www.peditips.com
Diagnosing Muscular Dystrophy
Detailed patient and family history (3 generation pedigree)
Determine the source of the muscle weakness (nerve or muscle
Laboratory tests:
Serum CK is very elevated
Troponin I is elevated above normal but not to levels in cardiac
ischemia
Liver enzymes show high AST & ALT
Muscle biopsy - Endomysial fibrosis Variable fiber size: Small
fibers rounded Dystrophic muscle Hypercontracted (opaque)
muscle fibers
Myopathic grouping
Muscle fiber degeneration & regeneration
Muscle fiber internal architecture: Normal or immature
Dystrophin: Absent staining
Other membrane proteins: Sarcoglycans and Aquaporin 4 are
reduced
26. Dr Alpana SK, www.peditips.com
Diagnosing Muscular Dystrophy
CPK test
In DMD patients CPK leaks out of the muscle cell
into the bloodstream, so a high level (nearly 50 to
100 times more) confirms that there is muscle
damage. Affected individuals may have a value as
high as 15,000 to 35,000iu/l (normal = 60iu/l).
DNA test
The dystrophin gene is composed of 79 exons, and
DNA testing and analysis can usually identify the
specific type of mutation and the exon or exons
that are affected. DNA testing confirms the
diagnosis in most cases.[3]
27. Dr Alpana SK, www.peditips.com
a. Hematoxylin and eosin
staining of control tissue
b. Hematoxylin and eosin
staining of DMD patient,
which shows abnormal
variation in fiber size,
degenerating and
regenerating fibers,
immune cell infiltration,
and increased fibrosis
c. Immunofluorescence
analysis of dystrophin in
control tissue biopsy
d. Immunofluorescence
analysis of dystrophin in a
young DMD patient
biopsy, illustrating the
loss of sarcolemmal
staining in DMD
28. Dr Alpana SK, www.peditips.com
Prenatal tests
If one or both parents are 'carriers' of a particular
condition there is a risk that their unborn child will be
affected by that condition. 'Prenatal tests' are carried out
during pregnancy, to try to find out if the fetus (unborn
child) is affected.
The tests are only available for some neuromuscular
disorders. Different types of prenatal tests can be carried
out after about 10 weeks of pregnancy.
Chorion villus sampling (CVS) - 10-12 weeks
amniocentesis - 14-16 weeks,
placental biopsy and foetal blood sampling - 18 weeks.
Women and/or couples need to consider carefully which test to
have and to discuss this with their genetic counselor.
Earlier testing would allow early termination which would
probably be less traumatic for the couple, but it carries a
slightly higher risk of miscarriage than later testing (about
2%, as opposed to 0.5%).
29. Dr Alpana SK, www.peditips.com
Approach to Diagnosis of Childhood Muscular Dystrophy
No Deletion
Detected
Diagnosis of Dystrophinopathy (DMD or BMD)
Deletion Not
Informative
for Severity
Deletion Informative
for Severity.
Positive Family History
Deletion
Detected
DNA Analysis
for Dystrophin
Gene Abnormality
Male
Abnormal
Dystrophin
Merosin and
Adhalin Analysis
Normal
Dystrophin
Muscle Biopsy
Female
Elevated
Muscular Dystrophy
Unlikely
Normal
CK
Muscular Weakness
32. Dr Alpana SK, www.peditips.com
Treatment
There is no known cure for Duchenne muscular
dystrophy
Treatment is generally aimed at control of
symptoms to maximize the quality of life.
Corticosteroids such as prednisone and
deflazacort increase energy and strength and
defer severity of some symptoms.
Mild, non-jarring physical activity such as
swimming is encouraged. Inactivity (such as bed
rest) can worsen the muscle disease.
33. Dr Alpana SK, www.peditips.com
Treatment
Physical therapy is helpful to maintain muscle strength,
flexibility, and function.
Orthopedic appliances (such as braces and wheelchairs) may
improve mobility and the ability for self-care. Form-fitting
removable leg braces that hold the ankle in place during
sleep can defer the onset of contractures.
Appropriate respiratory support as the disease progresses
is important
Idebenone is a new drug currently being actively researched
and is expected to be approved in the US and Europe by
Santhera Pharmaceuticals. Meanwhile it is sold in the US as
a nutritional products mainly by Cognitive Nutrition.
www.cognitivenutrition.com/ The effective dose is 450 mg
daily.
34. Dr Alpana SK, www.peditips.com
Advances in Gene Therapy(3)
Researches have developed "minigenes," which
carry instructions for a slightly smaller version of
dystrophin, that can fit inside a virus. Utrophin..
Is similar to dystrophin and can be engineered.
Researchers have also created the so-called
gutted virus, a virus that has had its own genes
removed so that it is carrying only the dystrophin
gene
35. Dr Alpana SK, www.peditips.com
Prognosis
Duchenne muscular dystrophy eventually affects
all voluntary muscles and involves the heart and
respioratory muscles in later stages.
Survival is rare beyond the early 30s,although
recent advancements in medicine are extending
the lives of those afflicted.
Death in Duchenne muscular dystrophy most
commonly results from pulmonary insufficiency,
respiratory infections.
In about 10% of cases, death is due to cardiac
dysfunction..
36. Congenital Muscular Dystrophy
Presentation: neonatal onset of severe
weakness, delayed motor milestones,
contractures
Merosin negative/CMD A1
White matter hypodensities on brain scan but
normal mental capacity
Diagnosis by muscle biopsy
immunohistochemistry showing loss of α2-
laminin (AR-chromosome 6q22-23)
37. Neuronal Migration Disorders
With neuronal migration disorders get
mental retardation, brain malformations,
and clinical eye involvement
Fukuyama’s muscular dystrophy – affects
fukutin protein (AR – chromosome 9q31)
Muscle-eye-brain disease – affects
POMGnT1, (AR – chromosome 1p32-34)
Walker Warburg – affects POMT1 (AR)
Glycosyltransferases are also important in
neuronal development
38. Myotonic Muscular Dystrophy or
Steinert’s disease
Presentation – adult with multiple systems affected
Primarily distal and facial weakness
Facial features: frontal balding in men, ptosis, low-
set ears, hatchet jaw, dysarthria, swan neck, ^
shaped upper lip
Myotonia: worse in cold weather, after age 20
Heart: conduction block – evaluate syncope
Smooth muscle: constipation, care with swallowing,
gallstones, problems with childbirth, BP lability
Brain: learning disabilities, increased sleep
requirement
Ophthalmology: cataracts
Endocrine: insulin resistance, hypothyroidism,
testicular atrophy
39. FascioScapularHumeral Muscular
Dystrophy
Presentation:
Facial weakness with trouble blowing up a balloon,
sipping through a straw, whistling, trouble closing
the eyes at night, scapular winging that may be
asymmetric, pain
May have absence of pectoralis, biceps, or
brachioradialis
Also affected: mild high pitched hearing loss, retinal
abnormalities, mental retardation in early onset
Genetics/Testing
Southern blot testing available (chromosome 4q35)
for decrease in repeats normally present
Muscle biopsy may show lymphocytic infiltrates
40. Limb Girdle Muscular Dystrophy
Presentation: variable age of onset with
weakness and wasting of the limb-girdle
May have calf hypertrophy, involvement of
scapular muscle and deltoid in
sarcoglycanopathies
Many types involve dysfunctional sarcoglycans
– transmembrane proteins of the DAP that
interact with cytoplasmic proteins
Table 2 – types of LGMD
41. Oculopharyngeal Muscular
Dystrophy
Presentation: mid-adult with ptosis, facial
muscle weakness with difficulty swallowing,
proximal muscle weakness, may have
extraocular muscle weakness, more common
in French-Canadian and Hispanic population
Genetics
Muscle biopsy shows filamentous nuclear inclusions
and ubiquitin containing vacuoles
Affects poly A binding protein 2 (PABP2) by
expansion of a GCG repeat without anticipation
seen – Southern blot (chromosome 14q11-13)
42. Emery-Dreifuss Muscular Dystrophy
Scapuloperoneal MD
Presentation: stiff joints, shoulder and upper
arm weakness, calf weakness, cardiac
conduction defects and arrhythmias,
contractures
Genetics
X-linked type affects emerin
Diagnose by protein analysis of leukocytes or skin
fibroblasts
DNA testing available (chromosome Xq28)
AD affects lamin A or lamin C (chromosome 1q21)
Nuclear membrane proteins
43. Distal Muscular Dystrophy
Presentation: weakness in forearms, hands, and lower legs
clinically similar to a neuropathy but NCV normal
Muscle biopsy with autophagocytic vacuoles/ inclusion
bodies
Table 3 – Types of DMD
Welander distal myopathy AD/2p13 hands first
Anterior tibial/Markesbery-
Griggs/Udd
AD/2q31-33
Nonaka/Inclusion body myopathy 2 AR/9p13 Rimmed vacuoles, inclusion
bodies, affects GNE
Gowers/Laing distal myopathy AD/14q11
Miyoshi myopathy AR/2p13 Affects dysferlin
Distal myopathy with vocal cord and
pharyngeal weakness
AD/5
44. Myopathies
Central core disease:
Ryanodine receptor, Ca channel that mediates
excitation/contraction coupling, (AD – chromosome 19q13)
Associated with Malignant Hyperthermia
Myotubular myopathy
Myotubularin, important in myogenesis (Xq28)
Nemaline Myopathy
Caused by many defects, disorder of thin filaments
Rod-like stuctures on muscle biopsy
Inflammatory
Juvenile Dermatomyositis
Inclusion Body Myositis (usually distal)
Adult Polymyositis (associated with malignancy)
45. Therapy
Contracture prevention
Stretching exercises and postural
changing
Stretch the most contracture prone
groups (gastrocnemius, hip flexors,
iliotibial bands, hamstrings)
AFO at night to supplement
46. Strengthening/conditioning/endurance
Goal is to maintain or improve muscle strength
and maximize functional ability – slight
improvement is possible
Additional goal is to avoid muscular damage by
overwork or injury
No eccentric contraction or delayed soreness
Voluntary active exercise such as
swimming/hydrotherapy or cycling in ambulatory
children currently recommended
47. Mobility aids
Walking orthoses – KAFO
Standing frames, standing wheelchairs, swivel
walker occasionally used
Walkers where arm strength less affected
Transfer board
Wheelchair – power needed for independence
Plan for indoor lift, van with lift, roll in shower
Improving daily activities of daily living
Physical and Occupational Therapy – teaching
modified techniques
Antigravity orthoses are being developed to assist in
daily living activities
Splinting and therapy to prevent hand contractures
49. Surgery
note the risk inherent to surgery – malignant
hyperthermia
Palliative vs. rehabilitative
Tendon releases
Achilles
Need KAFO to walk post-op
Relieves pain and allow shoe wear
Hamstring and iliotibial band
Relieves hip and knee pain or contracture
Allows better gait compensation
50. Scoliosis – spine stabilization
Bracing is not effective with progressive
neuromuscular disease
Timely correction of scoliosis is important
for patient comfort and respiratory ability
Spine and scapular stabilization may aid
function of arms
Ophthalmology
Deficient eye closure oculomaxillofacial MD
and FSH MD may require artificial tears or
tarsorrhaphy
Treatment for cataracts in Myotonic MD
51. Respiratory
Patients with morning headache, nightmares,
excessive daytime somnolence, mental
dullness, difficulty concentrating, increased
colds, coughing, or pneumonia should undergo
evaluation
Influenza vaccine and pneumococcal vaccine
In-exsufflator for airway clearance, cough assist
Pulmonologist, pulmonary function testing
52. Assisted noninvasive ventilation
Oxygen alone does not ventilate!
Positive pressure ventilation vs. volume ventilation
with pressure limit
Assisted ventilation with tracheostomy
Talk to patient about degree of desired intervention
when respiratory status first starts to decline and
before an acute event
The goal is home ventilation
Cardiology
EKG – pacemaker for conduction defects and
arrhythmias
Echocardiogram – afterload reduction, digoxin for
cardiomyopathy
53. Nutrition/GI
Overweight and underweight are
common problems
Overweight impairs mobility
Underweight decreases strength & health
Protein and calorie supplements
Assess for dysphagia
Intestinal hypomotility in DMD, CMD,
and myotonic dystrophy can require a
bowel regimen to prevent constipation
54. Osteopenia/Osteoporosis
Begins before walking stops, fractures may end
walking
Worsened by steroids
Calcium supplements, Miacalcin may help
Psychology/Neuropsychological
Education – aid in planning
Special education may not be needed with
accomodation and modifications
Progressive loss of function affects patient and
family