NCG Diagnostic and Management Service for McArdle Disease and - - PowerPoint PPT Presentation

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NCG Diagnostic and Management Service for McArdle Disease and - - PowerPoint PPT Presentation

Dec 30, 2023 318 likes •523 views

Queen Square Centre for Neuromuscular Diseases NCG Diagnostic and Management Service for McArdle Disease and Related Disorders Lead clinician: Dr Ros Quinlivan McArdle disease Described 1951 Autosomal recessive Myophosphorylase

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Queen Square Centre for Neuromuscular Diseases

NCG Diagnostic and Management Service for McArdle Disease and Related Disorders Lead clinician: Dr Ros Quinlivan

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McArdle disease

  • Described 1951
  • Autosomal recessive
  • Myophosphorylase deficiency
  • Frequency 1:100,000 – 1:350,000

– 200-600 cases in UK

  • Diagnosis

– Ischaemic/non-ischaemic exercise test – Muscle phosphorylase – DNA testing of myophosphorylase gene (common mutation - R50X)

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Anaerobic/aerobic exercise

Anaerobic Sprinting, carrying heavy loads, weight lifting, walking uphill, tensing of muscles Glycogen myophos phorylase Glucose Lactate, ATP Aerobic Jogging, cycling, walking Fatty acids β-oxidation ATP

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Symptoms

  • Fatigue and pain within a few minutes of

exercise

– Muscle spasms, contractures – Myoglobinuria – Second wind (improvement of exercise performance after initial wekness) – Can lead to rhabdomyolysis

  • Persistently increased CK
  • Increased risk of gout
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NCG service

  • First discussions with NCG – 2003
  • Service to cover

– Any patient with a suspected muscle Glycogenolytic/ Glycolytic Disorder – Any patient with a confirmed muscle Glycogenolytic/ Glycolytic disorder – Include investigation & management

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Diagnostic Service

  • Diagnostic

– Clinical evaluation/ diagnosis – DNA – Muscle biopsy

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DNA

  • R50X/ G205S Hot spot analysis
  • Positive diagnosis in 70%, British Caucasians
  • Heterozygosity in 95%, British Caucasians
  • Birmingham Children’s Hospital
  • Sheffield Children’s Hospital
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Full gene Sequencing

  • PYGM (Myophosphorylase)
  • PFKM (Muscle phosphofructokinase)
  • PHKA1 (Phosphorylase b kinase subunit A1)
  • PHKB1 (Phosphorylase b kinase subunit B1)
  • Direct access directly available via NCG form if

clinically relevant

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Muscle Histology/ Histochemistry

  • Dr Janice Holton
  • Pathology review biopsy slides
  • Histochemical staining for phosphorylase and

PFK

  • MDT review of slides
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Muscle Biochemistry

  • Ralph Wigley Clinical Scientist
  • Service is being set-up
  • Not yet fully available
  • Aim to identify rare glycolytic storage disorders

e.g. muscle phosphorylase b kinase deficiency

  • To double check conflicting results i.e. where

muscle histochemistry is negative but no mutation

  • n gene sequencing
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Clinical Service

  • Medical assessment and diagnosis of suspected

cases

– Patients presenting with exercise induced myalgia and /or rhabdomyolysis

  • Investigation includes

– Exercise assessment – Muscle and skin biopsy (including fatty acid oxidation defects and muscular dystrophy) – Genetic Studies (including fatty acid oxidation defects and muscular dystrophy)

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Clinical service

  • Aim

– Provide information to patients on their condition – Encourage regular aerobic exercise – Reduce frequency of rhabdomyolysis episodes – Advice for management on acute rhabdomyolysis

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Clinical service

  • Management clinic

– Walking assessment – Quality of life assessments – Motivational techniques to increase exercise capacity – Weight and dietary management – Psychological input to reduce anxiety – Exercise advice

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Multi-Disciplinary Clinical team

  • Dr Ros Quinlivan

– Consultant in Neuromuscular Disease

  • Miss Victoria Davies

– Physiotherapist

  • Mrs Andrea Beggs

– Clinical Nurse Specialist

  • Dr Jatin Pattni

– Clinical Psychologist

  • Dr Richard Godfrey

– Exercise Physiologist

  • Dr John Buckley

– Exercise Physiologist

  • Miss Heidi Chan

– Dietician

  • Ms Charle Maritz

– Dietician

  • Miss Charlotte Ellerslie

– Dietician

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Peer Support

  • Andrew Wakelin, President AGSD present at

clinics.

  • Patients encouraged to meet one another
  • Information about support group and their

activities given

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Providers

  • Dr Ros Quinlivan

– Queen Square Centre for Neuromuscular Disease – Dubowitz Neuromuscular Centre, GOSH

  • Dr Janice Holton
  • Institute of Neurology, Queen Square
  • Dr Richard Kirk

– Sheffield Children’s Hospital

  • Dr Sarah Ball (Mary Anne Preece)

– Birmingham Children’s Hospital

  • Professor Simon Heales

– Enzyme Laboratory GOSH

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Developmental History

2003 First discussion with NCG 2007 Application submitted 2008 Decision by NCG deferred 1 yr 2009 NCG application approved 2010 Deferred 1 yr due to Dr Quinlivan’s move 2011 Contract signed 2012 Physiotherapist and Nurse appointed

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Service Pathway

Patient with Myalgia/ Rhabdomyolysis GP, Neurology, Paediatric, Rheumatology

  • r Muscle service

NCG Centre For diagnosis

  • r

management R50X/G205S Muscle histology / histochemistry Gene sequencing: PYGM, PFKM, PHKA1, PHKB1, PGAM Muscle biochemistry

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Referrals

  • For all referrals please send a completed form

to the relevant provider

  • For clinical/muscle biopsy assessment please

send form electronically with a referral letter

  • Contact numbers and NCG request forms can

be downloaded from CNMD website http://www.cnmd.ac.uk/

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Queen Square Centre for Neuromuscular Diseases

Acknowledgements: National Commissioning Group Association for Glycogen Storage Disorders Muscular Dystrophy Campaign

Care and Research