Download - Muscular Dystrophy Presentation (Final)
MUSCULAR DYSTROPHYCASE STUDY PRESENTATIONMatt ReynoldsOxford Brookes University
Why Muscular Dystrophy? Outpatient Case Study
Poorly understood outside Paediatric specialism Rare
Overall prevalence of muscle diseases is under 1:1000 Progressive condition leading to:
Physical Disability Reduced Independence
Reduced Life-Expectancy Significant developments in the management and
understanding mean this is improving
(Wagner et al., 2007)
What is Muscular Dystrophy? Heterogeneous group of genetically
determined disorders Progressive Degeneration of Skeletal
Muscles Increased Disability
Reduced Independence
Variable Presentations NO cure
(Muscular Dystrophy UK, 2015)
Who’s Affected by MD? 70,000 people in the UK (Muscular
Dystrophy UK)
Duchenne MD most common 100 boys born with DMD each year 2500 males living with the condition
One of which turned up for Neuro Rehabilitation
Case Study Introduction Age Female
Diagnosis in 1986
Stuck to her chair
Initial Presentation Muscle Weakness
Distal > Proximal Reduced ROM
Ankles Wrists Lx and Hips
Low Tone ++ in Lower Limb Muscle Wastage in Thenar and Hypothenar
Eminence Sensations Intact
Functional Presentation Loss of Independence during STS:
Low Chair High Chair = Independent
Loss of Independence with Tall Steps Reduced Mobility
Decreased walking tolerance Pain in Lx, Hips and Lower Limbs
History of Falls Trendelenburg Gait
Reduced Dexterity
Additional Problems Dysarthria ? Dysphagia Incontinence and Constipation
PMH: Heart Murmur Epilepsy Spinal Cord Operation (2009)
Medication and Social History Medication:
No condition specific medication Painkillers
Paracetamol/ Co-codamol Social History
Lives with partner, son and daughter Stairs
Stair Rail and Lift Shower with level access and a seat Raised Toilet Seat
What did we do? Provided advise regarding:
Onward Referrals: Occupation Therapist
Shower adaptations Adaptive Cutlery
Wheelchair Services Powered Wheelchair?
Hydrotherapy Heat/ Ice Grip Gloves
Prescribed Walking Aid HEP
Lx Rolls Hip Flexion
Mini Posterior Pelvic Tilts
Research into Muscular Dystrophy
Generally symptoms:• Weakened Muscles• Muscle Cramps• Functional Limitations and Compensatory Adaptations:• STS• Stairs• Mobility• Falls and subsequently methods for getting up off
the floor• Gower’s Manouevre
• Jumping• Balance• Gait
• ‘Waddling’• Trendelenburg
Complications/ Variable Symptoms Contractures Pain Inability to Walk Facial Muscle Weakness Ptosis Swallow Impairments Visual Impairments Scoliosis Respiratory Muscle Weakness Dilated Cardiomyopathy Slow or Irregular Heartbeat (Cardiac Arrhythmias)
What Causes MD? Gene Mutations
Structure and Function of Muscle Fibres affected
Inheritance Recessive Inherited disorder
1 in 4 chance of MD 1 in 4 chance of being healthy 2 in 4 chance of being healthy,
but a carrier Dominant Inherited disorder Sex-linked (X-linked) disorder
Spontaneous Mutation
Diagnosis Initial Investigation of Symptoms Family History Discussion Blood Tests
Creatine Kinase Genetic Testing
Electromyography (EMG) Muscle Biopsy Symptom Specific Tests
Types of MD Over 30 known variations
Reasons for Variations: Age of Symptom Presentation Affected Areas of Muscle Weakness Disability Life-expectancy Gender
(Centers for Disease Control and Prevention, 2016; Norwood et al., 2009; Muscular Dystrophy Association, 2015; Stokes and Stack, 2012)
Duchenne MD Most Common – 16:100,000 males in NE have DMD or BMD Males Muscle Weakness = before 5 years Muscles Involved First:
Upper Arms and Legs Other Areas Affected:
Brain Throat Heart Diaphragm/ Respiratory Muscles Stomach Intestines Spine Learning Difficulties/ Developmental Delay
Myotonic Dystrophy 11:100,000 individuals in NE have MMD Males and Females equally Muscle Weakness = between 10-30 years, ranges to 70 Muscles Involved First:
Face, Neck, Arms, Hands, Hips, Lower Legs Other Areas Affected:
Eyes Throat Heart Stomach Intestines Hormone-Producing Organs Nerves Skin
Facioscapulohumeral MD 4:100,000 individuals in NE have FSH
MD Males more than Females Muscle Weakness = by 20 years
(average = teens) Muscles Involved First:
Face, Shoulders (‘winging’ scapula), Upper Arms, Lower Legs
Other Areas Affected: Eyes Ears Heart (atrial arrhythmias) Trunk
Becker MD Closely Related to DMD 16:100,000 males in NE have DMD or BMD Males Muscle Weakness = between 7-12 years Muscles Involved First:
Upper Arms and Legs Other Areas Affected:
Brain Throat Heart Diaphragm/ Respiratory Muscles Stomach Intestines Spine
Limb-Girdle MD 2:100,000 individuals in NE have
LGMD Males and Females equally Muscle Weakness = ranges from early
childhood to late adulthood Muscles Involved First:
Shoulders and Hips Other Areas Affected:
Heart Diaphragm/ Respiratory Muscles Spine
Oculopharyngeal MD Less than 1:100,000 individuals
in NE have OPMD Males and Females equally Muscle Weakness = after 40
years Muscles Involved First:
Face (mostly around eyes), Neck, Upper Arms and Legs
Other Areas Affected: Throat
Emery-Dreifuss MD Less than 1:100,000 individuals in
NE have EDMD Males Muscle Weakness = between 5-
15 years Muscles Involved First:
Upper Arms and Lower Legs Other Areas Affected:
Heart Spine
Treating MD NO Cure
Mobility Assistance Breathing Assistance Surgery Medication Swallowing Heart Education/ Health Promotion Alternative Therapies Support Groups
Mobility Assistance Low Impact Exercise
Swimming Walking Hydrotherapy
ROM and Stretching Exercises Passive Stretching and Splinting
Mobility Aids Wheelchair and Crutches Neater Arm Support Powered Profiling Beds Toilet Frames/ Bathroom Equipment
Physical Aids Leg Braces Night Splints AFOs
(Aitkens et al., 1993; Ansved, 2003; Geytenbeek, 2002; Hyde et al., 2000; Kilmer et al., 1994; Kilmer, 2002; Lindeman et al., 1995; Muscular Dystrophy UK, 2015; Newham et al.,
1986; Scott et al., 1981; Sveen et al., 2008; Stokes and Stack, 2012)
Breathing Assistance Breathing Exercises Mechanical Assistance
NIV Cough Assist IPPB
(American Thoracic Society, 2004; Godwin, 2016; Pryor and Prasad, 2008)
Surgery Postural Deformities
Scoliosis Contractures Scapular Fixation
(Rhee and Ha, 2006)
Medication Corticosteroids
Prednisone Side-Effects
Anti-Convulsants Muscle Spasms
Immunosuppressant's Creatine Supplements
(American Thoracic Society, 2004; Manzur et al., 2008)
Swallowing Dietician Speech and Language Therapist Surgery
Heart ACE Inhibitors Beta-Blockers
Irregular Heartbeat (Arrhythmias or Dysrhythmias)
Pacemaker Irregular Heartbeat
(Duboc et al., 2007)
Education/ Health Promotion Diet Exercise Sleep
(Muscular Dystrophy UK, 2015)
Alternative Therapies Supported:
Massage Green Tea
Unsupported: Acupuncture Royal Jelly
(Muscular Dystrophy UK, 2015)
Support Groups National Charities
Muscular Dystrophy Campaign Muscular Dystrophy UK
Local Support Groups
Type Specific National Support Groups: Action Duchenne Myotonic Dystrophy Support Group Becker United DMD Trust Duchenne Family Support Group Muscular Dystrophy Association (USA)
Current Research Exon Skipping
Stem Cell
Principles of Physiotherapy Rx To maintain muscle strength and retard
contracture progression to maximise function
To promote or prolong ambulation with appropriate orthoses
To delay or control the development of scoliosis
To treat promptly any respiratory and cardiac complications
Benefits of Physiotherapy Maintain muscle strength in order to delay
muscle wastage Improve range of movement and flexibility Reducing pain and stiffness Improving posture Improving balance and coordination Maximising mobility Maximising independence with functional
activities Improving quality of life
Pt Assessment Muscle Strength
Oxford Grading Scale Joint Range
Goniometry Functional Performance
Rise from floor STS Gait Analysis Balance
Motor Ability Tests The North Star Ambulatory Assessment
Timed Tests Timed 10m Walk
Lung Function Spirometry(Fisher et al., 1990; Mazzone et al., 2009; Muscular Dystrophy UK, 2009;
Wiles et al., 1990)
Time to Reflect What happened?
Presented with an unusual outpatient case, of which I had very little understanding
What went well? We were able to correctly advise on referral to OT, Wheelchair Services,
and Hydrotherapy each advocate in my research What did not go so well?
Initially my poor understanding limited my treatment choices and the direction of my assessment
What have I learnt? Greatly increased my understanding of the various conditions, and how
their presentation affects treatment goals and expectations Current research, and treatment choices advocated
What will I do next time Able to focus my initial assessment towards identifying problems
associated with MD Direct my treatment based on current evidence base
References American Thoracic Society (2004) ‘Respiratory care of the patient with Duchenne
muscular dystrophy’, American Journal of Respiratory and Critical Care Medicine, 170(4), pp. 456–465. doi: 10.1164/rccm.200307-885st.
Ansved, T. (2003) ‘Muscular dystrophies: Influence of physical conditioning on the disease evolution’, Current Opinion in Clinical Nutrition and Metabolic Care, 6(4), pp. 435–439. doi: 10.1097/01.mco.0000078987.18774.d9.
Centers for Disease Control and Prevention (2016) Facts about Muscular Dystrophy. Available at: http://www.cdc.gov/ncbddd/musculardystrophy/facts.html (Accessed: 11 April 2016).
Duboc, D., Meune, C., Pierre, B., Wahbi, K., Eymard, B., Toutain, A., Berard, C., Vaksmann, G., Weber, S. and Bécane, H.-M. (2007) ‘Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years’ follow-up’, American Heart Journal, 154(3), pp. 596–602. doi: 10.1016/j.ahj.2007.05.014.
Eagle, M., Baudouin, S.V., Chandler, C., Giddings, D.R., Bullock, R. and Bushby, K. (2002) ‘Survival in Duchenne muscular dystrophy: Improvements in life expectancy since 1967 and the impact of home nocturnal ventilation’, Neuromuscular Disorders, 12(10), pp. 926–929. doi: 10.1016/s0960-8966(02)00140-2.
Eagle, M., Bourke, J., Bullock, R., Gibson, M., Mehta, J., Giddings, D., Straub, V. and Bushby, K. (2007) ‘Managing Duchenne Muscular Dystrophy – the additive effect of spinal surgery and home nocturnal ventilation in improving survival’, Neuromuscular Disorders, 17(6), pp. 470–475. doi: 10.1016/j.nmd.2007.03.002.
References Fisher, N., Pendergast, D. and Calkins, E. (1990) ‘Maximal isometric torque of knee
extension as a function of muscle length in subjects of advancing age’, Archives of Physical Medicine and Rehabiliation, 71, pp. 729–734.
Godwin, W. (2016) Commissioning policy for cough assist requests. Available at: http://hub.muscular-dystrophy.org/wp-content/uploads/2016/02/Cough-Assist-Commissioning-proforma-draft-FV-180216.pdf (Accessed: 11 April 2016).
Hyde, S.A., Fløytrup, I., Glent, S., Kroksmark, A.-K., Salling, B., Steffensen, B.F., Werlauff, U. and Erlandsen, M. (2000) ‘A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy’, Neuromuscular Disorders, 10(4-5), pp. 257–263. doi: 10.1016/s0960-8966(99)00135-2.
Manzur, A.Y., Kuntzer, T., Pike, M. and Swan, A.V. (2008) ‘Glucocorticoid corticosteroids for Duchenne muscular dystrophy’, The Cochrane Library, . doi: 10.1002/14651858.CD003725.pub3.
Mazzone, E.S., Messina, S., Vasco, G., Main, M., Eagle, M., Amico, A. D’, Doglio, L., Politano, L., Cavallaro, F., Frosini, S., Bello, L., Magri, F., Corlatti, A., Zucchini, E., Brancalion, B., Rossi, F., Ferretti, M., Motta, M.G., Cecio, M.R., Berardinelli, A., Alfieri, P., Mongini, T., Pini, A., Astrea, G., Battini, R., Comi, G., Pegoraro, E., Morandi, L., Pane, M., Angelini, C., Bruno, C., Villanova, M., Vita, G., Donati, M.A., Bertini, E. and Mercuri, E. (2009) ‘Reliability of the north star ambulatory assessment in a multicentric setting’, Neuromuscular Disorders, 19(7), pp. 458–461. doi: 10.1016/j.nmd.2009.06.368.
Muscular Dystrophy Association (2015) Diseases List. Available at: https://www.mda.org/disease/list (Accessed: 11 April 2016).
References Muscular Dystrophy UK (2009) North Star Ambulatory Assessment. Available at:
http://www.musculardystrophyuk.org/assets/0000/6388/NorthStar.pdf (Accessed: 11 April 2016).
Muscular Dystrophy UK (2015) Progress in Research. Available at: http://www.musculardystrophyuk.org/progress-in-research/ (Accessed: 11 April 2016).
NHS Choices (2015) Muscular Dystrophy. Available at: http://www.nhs.uk/conditions/muscular-dystrophy/Pages/Introduction.aspx (Accessed: 11 April 2016).
National Institute of Neurological Disorders and Stroke (2016) Muscular Dystrophy: Hope Through Research. Available at: http://www.ninds.nih.gov/disorders/md/detail_md.htm (Accessed: 11 April 2016).
Newham, D.J., Jones, D.A. and Edwards, R.H.T. (1986) ‘Plasma creatine kinase changes after eccentric and concentric contractions’, Muscle & Nerve, 9(1), pp. 59–63. doi: 10.1002/mus.880090109.
Norwood, F.L.M., Harling, C., Chinnery, P.F., Eagle, M., Bushby, K. and Straub, V. (2009) ‘Prevalence of genetic muscle disease in northern England: In-depth analysis of a muscle clinic population’, Brain, 132(11), pp. 3175–3186. doi: 10.1093/brain/awp236.
Pryor, J.A. and Prasad, S.A. (2008) Physiotherapy for respiratory and cardiac problems: Adults and paediatrics. Edited by Jennifer A. Pryor. 4th edn. Edinburgh: Churchill Livingstone Elsevier.
Rhee, Y.G. and Ha, J.H. (2006) ‘Long-term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy’, Journal of Shoulder and Elbow Surgery, 15(4), pp. 445–450. doi: 10.1016/j.jse.2005.10.015.
References Muscular Dystrophy UK (2009) North Star Ambulatory Assessment. Available at:
http://www.musculardystrophyuk.org/assets/0000/6388/NorthStar.pdf (Accessed: 11 April 2016).
Muscular Dystrophy UK (2015) Progress in Research. Available at: http://www.musculardystrophyuk.org/progress-in-research/ (Accessed: 11 April 2016).
NHS Choices (2015) Muscular Dystrophy. Available at: http://www.nhs.uk/conditions/muscular-dystrophy/Pages/Introduction.aspx (Accessed: 11 April 2016).
National Institute of Neurological Disorders and Stroke (2016) Muscular Dystrophy: Hope Through Research. Available at: http://www.ninds.nih.gov/disorders/md/detail_md.htm (Accessed: 11 April 2016).
Newham, D.J., Jones, D.A. and Edwards, R.H.T. (1986) ‘Plasma creatine kinase changes after eccentric and concentric contractions’, Muscle & Nerve, 9(1), pp. 59–63. doi: 10.1002/mus.880090109.
Norwood, F.L.M., Harling, C., Chinnery, P.F., Eagle, M., Bushby, K. and Straub, V. (2009) ‘Prevalence of genetic muscle disease in northern England: In-depth analysis of a muscle clinic population’, Brain, 132(11), pp. 3175–3186. doi: 10.1093/brain/awp236.
Pryor, J.A. and Prasad, S.A. (2008) Physiotherapy for respiratory and cardiac problems: Adults and paediatrics. Edited by Jennifer A. Pryor. 4th edn. Edinburgh: Churchill Livingstone Elsevier.
Rhee, Y.G. and Ha, J.H. (2006) ‘Long-term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy’, Journal of Shoulder and Elbow Surgery, 15(4), pp. 445–450. doi: 10.1016/j.jse.2005.10.015.