Introduction

Jacob is a 38-year-old married man who lives with his wife. They have no children or close family in the UK and describe themselves as having a very full and active social life enjoying coastal sports and outdoor activities.

His original diagnosis of probable MND was made by a neurologist in clinic 6 weeks ago. Jacob sought a second opinion and subsequently received a confirmed as limb-onset motor neurone disease (ALS) during a hospital admission under the care of another neurologist 3 weeks ago. Jacob describes the diagnosis as “a death sentence”.  

He has been referred to the MDT Clinic and is due to attend next month. He has, however, been seen at home by the care co-ordinator since his discharge from hospital and was assessed by both the physiotherapist and occupational therapist whilst on the ward.

Case Presentation

Jacob describes a year long history of tripping over his left foot, reporting that he felt that his ankle had become “wobbly” and he was always catching his toes. Following a second stumble 10 months ago (sustained whilst walking along a pebble beach) he attended the Physiotherapy Walk-in Clinic at his local hospital. He was treated for a lateral ligament sprain; provided with exercises and given reassurance that he could return to surfing and paddle-boarding within 4-6 weeks. This has not been the case and Jacob is extremely frustrated by this.

• The following investigations were performed during his hospital stay:

• MRI of the brain and spinal cord noted to be unremarkable
• Nerve conduction studies are normal in the upper & lower limbs with fully preserved sensory responses. There are no demyelinating features.
• EMG is abnormal in all muscles sampled with a mixture of active and chronic denervation changes associated with frequent fasciculations in his limb and abdominal muscles.
• Loss of muscle bulk in the left leg was observed but not quantified.

• Physical examination whilst on the ward 3 weeks ago identified:

• Weakness in his left ankle dorsiflexors (MRC 4/5)
• Brisk tendon reflexes on the left (tendo-achilles and patellar tendon)
• A positive Babinski sign on the left
• Modified Ashworth Scale of 1 in ankle plantarflexors

The ward physiotherapist noted a slight limp with “stiffness during the swing phase of gait” on the left. Jacob declined the offer of a walking stick. Orthotic devices for the foot and ankle were not discussed. He was noted to be independent; climbing stairs with minimal use of a right ascending handrail. Descending stairs he was noted to be more cautious and reliant on the handrail.

The occupational therapist on the ward reported no difficulties with personal Activities of Daily Living and noted that Jacob chooses to sit down to dress his lower half. Jacob lives in a privately owned modern 3 storey town house. Noting the findings from his stair assessment and his insistence that he has no difficulties ascending or descending stairs, a home visit was not performed.

Jacob expressed that since having his “death sentence” of a diagnosis he had performed an internet search and is becoming more accepting. He understands the disease course to be variable and suspects he may have Primary Lateral Sclerosis.

Management and Outcome

Jacob has only just been diagnosed with MND and is struggling to come to terms with it. He is angry that the diagnosis was not suspected when he attended Physiotherapy Walk-In Clinic 10 months ago.

During his initial home visit from the MND Care Co-ordinator his ALS-FRS score was noted to be 45/48:

Jacob has not yet undergone respiratory assessment, however denies any symptoms of respiratory insufficiency.

• what do you believe are the 2/3 main issues?
• what needs to happen next?
• who to involve?
• how you would organise those next steps?
• what is the key information you would pass on to other MDT members and how?

Compare your answers to those of 2 other MDTs by watching these videos:

Oxford Group Case One: https://youtu.be/ngokyMdpTgA

Physio Case Study One: https://youtu.be/5TmJQgxSHjc