An Overview Neuromuscular Services for children and

young people in Northern Ireland

Contents

• Overview of Neuromuscular disorders• Spinal Muscular Atrophy

• Hereditary motor sensory neuropathy

• Duchenne Muscular Dystrophy

• Congenital Myotonic Dystrophy• NHSCT overview

• Belfast Trust Regional service overview

Neuromuscular disorders are…….

• Progressive acquired or hereditary disorders caused by an abnormality of any component of the lower motor neuron - anterior horn cell, peripheral nerve, neuromuscular junction (pre-synaptic or post-synaptic region), or muscle.

• Many neuromuscular diseases are multi-system disorders affecting multiple organ systems (Mc Donald et al 2013)

CMD/ DMD/BMD

Myotonic Dystrophy

Congenital myopathies

Neuromuscular junction:Congenital MyastheniaJuvenile Myasthenia GravisBotulism

Click to add text

Hereditary- HMSNGBS

Friedrich's Ataxia

Spinal Muscular atrophy

Spinal Muscular Atrophy

SMA Type 1-Subtypes

(60% of population)

• SMA 1a- Severe neonatal variant with joint contracture and a paucity of movement present at birth has a poor prognosis, often needing ventilation as a neonate

• SMA 1b- is the typical SMA 1 Poor head control and difficulty handling oral secretions upon or shortly after presentation and has an intermediate prognosis

• SMA 1c- Is the minority type 1, achieve head control or who can sit with support , have best prognosis. Should be considered as weak SMA Type II in terms of assessment and management

Weakened intercostal muscle- Paradoxical breathing

Tongue fasciculations- involvement of bulbar neuronsPoor suck and swallow

Standards of care• Physiotherapy is recommended!

• "Regular sessions of PT may influence trajectories of progression"

Assessment SMA

Body Structure and function Activities Participation

• ROM• MMT• Myometry

Ambulatory- Type III•6MWT•HFMSENon-ambulatory•MFM•GMFM•HFMSE•CHOP -INTEND•TIMP•EK2RULM

Paeds Qol Neuromuscular module

Non-sitters

• Stretching /Use of orthoses• Positioning• Mobility and exercise• Chest physiotherapy

Sitters

• Stretching/ use of orthoses• Positioning• Mobility and Exercise• Chest physiotherapy

Ambulant

• Recommend aerobic and general conditioning exercise for SMA walkers• Stretching and lower limb orthothes

• Promote Function and mobility!

Considerations;• Contractures• Risk of fractures• Scoliosis• Hip instability

•Equipment

• Spinraza(Nusinersen)Available under managed access agreement-NICE• Licensed• Physiotherapy

assessment

Managed Access agreement stopping criteria:

• Deterioration as assessed in two subsequent tests (4 months apart):• by more than 2 points on horizontal kick or (more than) 1 point on other scores

excluding voluntary grasp – on the HINE scale• by more than 4 points on the CHOP-INTEND scale• by more than 3 points on the Revised Hammersmith Scale

• Start of mechanical ventilation for more than 16 hours a day for more than 21 consecutive days

• In children who stopped walking in the last 12 months: an inability to regain independent ambulation after 12 months of treatment

Delivered Intrathecally

Interpreting motor scoresChildren treated younger have better outcomes

Score above 50-may correlate with sitting

SMA Type I infant average baseline score: 20–22 out of 64 points

ENDEARCHERISHNURTURE

HMSN- Most common inherited peripheral neuropathy

Foot - Fore foot driven hind foot deformity• Claw toe• Forefoot Cavus• Hind foot varus

Reduced sensation: Pinprick/Vibration and Temperature Gradient

Foot pain and muscle cramps

Trips and Falls/ Balance

Altered gait

Coleman Block test

Distal weakness and wasting Depressed DTR’s Sensory findings

Wasting of thenar eminence

Resistance training

Orthotics-Accommodate

deformity/improve pressure loading/ drop

foot

Stretching-Gastroc/Soleus/ Hip flexors/ hamstrings

muscle strengthening-hip abductors/ hip

flexors

Managing Fatigue-pacing activities Weight Management

balance training Increase stability when standing and walking

Duchenne Muscular Dystrophy

l X-linked condition affecting the muscles (not nerves)

l Caused by mutations in dystrophin genel Can be passed on from mother’s gene or a new

gene mutationl 19.5 cases per 100,000 live births in the UKl Progressive muscle damage and degeneration

l Causes muscle hypertrophy and the replacement of muscle fibres by fibrous and/or fatty tissue

l Gowers maneuver / sign – often 1st sign observed – may be referred to physio for developmental delay.

l Diagnosis confirmed via blood tests (CK) and then muscle biopsy or genetics.

Lancet Neurol 2018; 17: 251–67

N. Ireland pathway for DMDl Initial Assessment

l 4 sections:

Ø Pre-symptomatic / Early ambulant

Ø Going off feet / Early Non Ambulant

Ø Wheelchair user

Ø Palliative care

Ambulant

Outcome measures:Linked to ICF classification:

Ø FunctionalØ Participation scalesØ QOLØ Other – pain / fatigue

Standardised Assessments

l NSAA – new updated form which incorporates ambulatory / non-ambulatory / transition / respiratory aspects

l EK2l PUL 2.0l Timed tests – 10m / 6 min walk test / timed up and

go

Interpretation of assessment scores

l NSAA - score of 6 secs on 10m walk corresponded to 358m on 6MWT

l 10m walk / rise from floor / 4 stair climbl 6 MWT– score of bwt 330-350m was predictive to retain

ambulation for 2 yrs – a change of 30 m was significant

Physiotherapy Management

1. Minimise contractures and deformity 2. Minimise loss of function3. Pain management4. Respiratory management

Treatment:1. Monitoring function as per Ax – be specific to the

individual2. Direct intervention if required – eg. post Sx / fall3. Education for parents / carers on:

l Daily preventative stretchingl Use of orthotics (AFO’s / KAFO’s / serial casting)l Use of SF / SSl Use of power positioning on motorised WC’s

Education continued:l Regular sub maximal aerobic exercise –

participation in swimming and cycling l AVOIDANCE off over-exertion – should not be

‘practicing’ activities that may induce muscle damage, even if clinically well. Painful muscles are usually a sign of overuse

l AVOIDANCE of eccentric (jumping/ trampolines or hopping) and asymmetrical (scooters) muscle activity

l Resting and energy conservation

l Falls and # managementl Pain managementl Importance of activity v’s inactivity – ‘no use is

dis-use’ (within limitations) and finding the balance

Let boys self-regulate – play if able – rest if need be – play again if they are keen!

COVID 19 / back to school:Clinical expertise at UK centres in conjunction with

international neuromuscular centres.High / Medium / Low risk

Families should keep up to date with current evidence as it is changing all the time and make

their own informed decisions. Close contact with school to insure school risk

assessment completed.

Myotonic Dystrophy (Dystrophia myotonica - DM 1)

o This is a autosomal dominant genetic condition that causes progressive muscle weakness and wasting

o Not to be confused with congenital muscular dystrophy, myasthenic syndrome, or myopathies

o It is described as a ‘very rare’ disease

l Affects skeletal, cardiac and respiratory muscles, swallowing, bowels, lens of the eye and brain.

l Age of symptoms varies from birth to old age and this is usually linked to the severity of the disease.

Genetics

l DMPK (myotonic dystrophy protein kinase) gene provides the instructions for making this protein and is located on chromosome 19q13.3

l Multiple repeats of CTG ( over 50 repeats are symptomatic )

l Increased no. of repeats - earlier onset –increased severity

2 main difficulties:

1. Dystrophy - Gradual weakening of certain muscles over time – esp. face / eyelids / jaw / neck

2. Myotonia – electrical problem – difficulty relaxing the muscles – esp. hands and jaw

Congenital MD:

l Most severe – up to 25% of affected children do not survive past their 1st birthday – once beyond this they are likely to live into adulthood.

l Very weak floppy babies that usually require respiratory and feeding support

l Progression of symptoms may improve during childhood but likely to deteriorate later in life as with all other types

Assessments

l AIMS / Bayley Infant and Toddler Development Scale / functional Axl ROM (UL / LL / spine) and orthopaedic Axl Gait / stairs / functionl Ax of myotonia if appropriatel Respiratory l Fatigue

Management – babies:l Developmental – as per Ax however careful with

prone positioning under the age of 2 due to neck weakness and respiratory compromise

l Positioning (24 hrs)l Supportive seating / standing equipmentl Orthotics – esp AFO’sl Respiratoryl Active aerobic play within limits of fatigue

Management – older children:l Functionl Monitor and management of ROMl Balance and proprioception workl Pain managementl Fatigue management – graded exercises /

participationl Intervention following e.g. ortho Sx as required

No use is dis-use

Regional Neuromuscular Clinic• Neurology MDT-Consultant/ Nurse Specialist/

Physiotherapist• Children are reviewed 6 monthly/ yearly

• Virtual clinic due to COVID-19• Aim to offer each child a physiotherapy assessment

and liaise with local physiotherapist pre and post clinic

• In process of developing clinic report template

Welcome any queriesGrainne.Nicfhirleinn@belfasttrust.hscni.net

Ataluren- NICE 2019- Manged access for nmDMD

Raxone- Respiratory function DMD

Links with other centers to avail of trials -GOSH /New castle/ Temple St

Nusinersen( SMA)

Risdiplam- (SMA)Oral medication / not licesnced but available under compassionate use

Future therapies- (SMA) Zolegsma- Gene therapy

Current available treatments

Northern Health and Social Care TrustContact: jaci.mcfetridge@northerntrust.hscni,net

o Neuromuscular Specialist - post 5 years o Cover both developmental / muscular and respiratory aspects of

physiotherapy roleo Allows families one point of contact

o Allows therapy to work on what is most relevant and appropriate at that time

Teaching families and liaison with education

Quote to finish!

“Whether you’re at home or out in the world, having a positive attitude can make you and others around you happier than

you think”

Referencesl Birnkrant, D.J., Bushby, K., Bann, C.M., Apkon, S.D., Blackwell, A., Brumbaugh,

D., Case, L.E., Clemens, P.R., Hadjiyannakis, S., Pandya, S. and Street, N., 2018. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. The Lancet Neurology, 17(3), pp.251-267.

l Muntoni, F., Domingos, J., Manzur, A.Y., Mayhew, A., Guglieri, M., UK NorthStarNetwork, Sajeev, G., Signorovitch, J. and Ward, S.J., 2019. Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PloS one, 14(9), p.e0221097.

l Community Children’s Physiotherapy Service: Northern Ireland Regional Pathway Guidance 2017

l Guidance for Paediatric Physiotherapists Managing Neuromuscular Disorders APCP Guidelines 2017

l MDUK education guidelines

l COVID 19 related – July 2020:https://www.gov.uk/government/publications/preparing-for-the-wider-opening-of-schools-from-1-june/planning-guide-for-primary-schools

Standing frames and aquatic therapy related:

l Pedlow, K., McDonough, S., Lennon, S., Kerr, C. and Bradbury, I., 2019. Assisted standing for Duchenne muscular dystrophy. Cochrane Database of Systematic Reviews, (10).

l Atamturk, H. and Atamturk, A., 2018. Therapeutic effects of aquatic exercises on a boy with Duchenne muscular dystrophy. Journal of exercise rehabilitation, 14(5), p.877.

l de Lima, A.A.R. and Cordeiro, L., Aquatic physical therapy in individuals with muscular dystrophy: systematic scoping review. January 2020

Myotonic Dystrophy related:

l Turner, C., Hilton-Jones, D., Lochmüller, H. and Hanna, M.G., 2013. MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonicdystrophy standards of care and national registry meeting, Newcastle, UK July 2011. Neuromuscular Disorders, 23(12), pp.1069-1080.

References

• Mercuri, E., Finkel, R.S., Muntoni, F., Wirth, B., Montes, J., Main, M., Mazzone, E.S., Vitale, M., Snyder, B., Quijano-Roy, S. and Bertini, E., 2018. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), pp.103-115.

• McDonald, C.M., 2012. Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Physical Medicine and Rehabilitation Clinics, 23(3), pp.495-563.

• https://www.nice.org.uk/guidance/TA588

• Mercuri, E., Finkel, R., Kirschner, J., Chiriboga, C., Kuntz, N., Sun, P., Gheuens, S., Bennett, C., Schneider, E. and Farwell, W., 2017. Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH study. Neuromuscular Disorders, 27, p.S210.

• Finkel, R., Kuntz, N., Mercuri, E., Chiriboga, C.A., Darras, B., Topaloglu, H., Montes, J., Su, J., Zhong, Z.J., Gheuens, S. and Bennett, C.F., 2017. Efficacy and safety of nusinersen in infants with spinal muscular atrophy (SMA): final results from the phase 3 ENDEAR study. European Journal of Paediatric Neurology, 21, pp.e14-e15.

• Aragon-Gawinska, K., Daron, A., Ulinici, A., Vanden Brande, L., Seferian, A., Gidaro, T., Scoto, M., Deconinck, N., Servais, L., SMA-Registry Study Group and Benezit, A., 2020. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen. Developmental Medicine & Child Neurology, 62(3), pp.310-314.

• Townsend, E.L., Simeone, S.D., Krosschell, K.J., Zhang, R.Z. and Swoboda, K.J., 2020. Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database. Pediatric Physical Therapy, 32(3), pp.235-241.

• Mandarakas, M.R., Menezes, M.P., Rose, K.J., Shy, R., Eichinger, K., Foscan, M., Estilow, T., Kennedy, R., Herbert, K., Bray, P. and Refshauge, K., 2018. Development and validation of the Charcot-marie-tooth Disease Infant Scale. Brain, 141(12), pp.3319-3330.

• Burns, J., Ouvrier, R., Estilow, T., Shy, R., Laurá, M., Pallant, J.F., Lek, M., Muntoni, F., Reilly, M.M., Pareyson, D. and Acsadi, G., 2012. Validation of the Charcot–Marie–Tooth disease pediatric scale as an outcome measure of disability. Annals of neurology, 71(5), pp.642-652.

• Kenis-Coskun, O. and Matthews, D.J., 2016. Rehabilitation issues in Charcot-Marie-Tooth disease. Journal of pediatricrehabilitation medicine, 9(1), pp.31-34.