Supporting patients with neuromuscular conditions

Supporting patients with rare and complex neuromuscular conditions can be challenging for GPs. Dr Jyoti Vyas offers some advice based on her professional and personal experience

There are more than 60 progressive neuromuscular conditions, affecting 70,000 children and adults in the UK. However, recognising and supporting patients with rare and complex neuromuscular conditions presents a challenge for GPs. Symptoms of these conditions may include: muscle weakness resulting in difficulty with climbing stairs or lifting heavy objects; muscle stiffness or cramps; or fatigue. If a neuromuscular condition is considered, prompt referral to a neurologist is necessary.

To help support GPs recognise and manage these conditions, the Royal College of General Practitioners and Muscular Dystrophy UK have produced a new e-learning module on neuromuscular disorders. It covers a broad range of neuromuscular conditions and raises awareness of how different neuromuscular conditions can present in various ways and at different stages of life. It raises the important issue of appropriate referral to a specialist to receive a prompt diagnosis to enable appropriate planned management.

Diagnosis in early life

Severe forms of neuromuscular conditions are often identified and diagnosed early in life as they may present at birth (e.g. respiratory complications, feeding problems) or in the first few months when concerns are raised by parents when the child fails to reach expected milestones or has perceived muscle weakness, fatigue, difficulty with walking/climbing stairs or lifting objects. These difficulties can sometimes be mistaken for a variety of health problems or simple laziness.

My daughter is 31 years old and was diagnosed with type 2 spinal muscular atrophy (SMA) when she was 18 months old. We took her to our GP when we noticed that she was struggling to stand up – she would walk her hands up her legs and use her spinal muscles to straighten her torso. She was very unsettled in the night and needed to be moved several times – in hindsight this may have been because she was becoming stiff as she was unable to turn in bed. She was referred initially to an orthopaedic consultant who excluded hip problems and referred her to a neuromuscular clinic where she was diagnosed with SMA after tests, which included blood tests and a muscle biopsy. We were told that hers was a mild, non-progressive form and that she would have normal life expectancy. We were also told that there was no cure and that guided exercises to maintain her muscle power was the best form of management.

Timely referral and planning

A timely referral to specialist services is very important as an early diagnosis enables appropriate management of current issues and care-planning in terms of maintaining the level of function, anticipating possible problems or relapse in condition and complications due to poorly functioning muscles, especially respiratory complications.

Appropriate care planning to effectively manage the condition can make a huge difference to the quality of life of the affected individual and their families who are already struggling with their daily living (which we all take for granted!) both in the physical sense and psycho-social aspects.

Once a formal diagnosis is made, the GP needs to play a central role in the management of the condition; making referrals to various local and specialised services including hospital consultants, physiotherapists, occupational therapists, medical appliances, social services and so on. This also includes supporting and advising parents regarding the education of their child, the issues surrounding ‘statementing for educational needs’ of their child and discussing whether it is appropriate for their child to attend a mainstream school.

The GP needs to be confident in managing acute complications as the condition progresses and speak with the patient and their family about the psychological impact of coping with a condition that can be unpredictable and life-threatening. 

Transferring from paediatric to adult services

The transition from paediatric to adult services can be tricky. A new referral has to be made by a GP – unless the consultant in the specialist centre makes recommendations or directly refers. New physiotherapy and other services also have to be accessed. In my daughter’s case, she was referred to a general neurologist due to a lack of specialists in neuromuscular conditions who could manage adults.

My daughter had regular physio input from the hospital in the early years. A home-exercise programme was vigorously implemented to maintain her muscle power and function. She started using a wheelchair at the age of about eight years. Her upper limb weakness made it difficult to use a self-propelled manual wheelchair and she currently uses a powered chair. In spite of these challenges she lives a full and independent life and has a university degree. She also enjoys driving her adapted car, plays a leading role in the disability rights movement and has been happily married for nearly three years.

The neuromuscular e-learning module has been designed to help GPs understand the spectrum of genetic neuromuscular disease. It is easy to use and will help us identify the key presenting features and management issues for these conditions.

 Dr Vyas is a GP and has a daughter with spinal muscular atrophy type 2

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