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.