Lower extremity amputation in hereditary sensory and autonomic neuropathy: Amputee Case Study

Title

Lower extremity amputation in hereditary sensory and autonomic neuropathy

Abstract

14-year-old female has bilateral TT amputation as a result of hereditary sensory and autonomic neuropathy. Her complaints: outdoor wheelchair-dependent and walking on stumps indoors, was assessed by MDT. She received pre-prosthetic rehab. (stump management, strengthening, stretching, balance, endurance exc.) She was fitted, gait-training exercises was provided to maximize prosthetic use. PT and prosthetist worked together as she was challenging them, they tried to fulfill her expectation respecting cosmetic appearance and functionality. She was discharged using prosthesis without assistant.

Key Words

amputation, bilateral trans-tibial, prosthetic fitting, gait training, social inclusion

Client Characteristics

AJ is 14-years old girl, student at grade 8 from a poor family. She has a hereditary sensory and autonomic neuropathy. She had a history of multiple admissions in many different hospitals in Gaza and Israel due to ulcers of both lower limbs and all fingers due to her pathology. She went through many surgeries leading to multiple lower and upper extremity amputations. As a result she ended up having bilateral below knee amputation and bilateral upper extremity interphalangeal amputations of all fingers, she received few PT sessions when she was hospitalized.She was discharged home and her status was stable.

Once her wounds were healed she came to the artificial limbs and polio center. She was assessed by the MDT clinic (orthopedic consultant, physiotherapist and prosthetic technician) where then she was referred to the physiotherapy department for full assessment. NB. She has a sister one year older than her with the same disease with multiple lower and upper extremity amputations.

Examination Findings

Patient reports that she walks on her knees at her house to fulfill her needs. To go outside home, her parents have to transfer and help her and her sister in ADL using wheelchair. Being dependent on wheelchair, she reports that she can't go to school due to her disability, instead she studies at home and goes only for final exams. Mother stated that AJ hardly participates in social events and does feel herself disable person.

Patient states she would like to receive appropriate prosthesis to help her walk as normal person and reduce the stress on her parents. She reports that she would like to see herself standing and wear trousers and go for shopping as other girls.

  • Positive Thomas test of both hips (5° Rt, 10° Lt) due to long sitting on wheelchair
Left knee 10°, Right knee 15° flexion contractures

  • Joints stability OK
  • TT stump circumference was measured in order to set the baseline Rt. TT is very short level, Lt Stump is bulbous.
  • 
Has scars over the stumps as she walks on her knees at home doing her activities Wounds are healed, no neuroma
  • Muscle power of LE between 3 and 4. UE muscle power is normal
  • 
ICF findings: in home environment, she stands on her knees and walks. Very limited activities within society, require assistance to carry objects due to amputations of fingers, parents have to push her wheelchair when they go outside home. She always refuses to participate in occasions due to disability.

Clinical Hypothesis

There were multiple problems to deal with, the contractures that she has in knees and hips, and the very short stump of her right TT amputation. Efforts have to be addressed to discharge her without considering use of assistive devices due to her problems in her hands where possibility for developing wounds is very high. Her amputations require great efforts to balance the energy expenditure that she requires to fulfill her request. Her motivation and high expectation of being as normal person is a big challenge especially having her pathology as a first experience to the staff.

Intervention

Pre-prosthetic: transfer and functional, strengthening and stretching exc for hips and knees, stump management (scar management, sensation improvement, weight bearing, bandaging etc.), coordination and balance training. Before deciding if AJ was ready to be casted, checklist was completed includes (stump circumference, m. power of LE&UE, ROM, skin status, Thomas test, balance and transfer).She was fitted with Rt. PTB-prosthesis (thigh corset) and Lt PTB-prosthesis.

Post-fitting: first fitting check and gait training: weight bearing, balance, Specific gait training, Advanced, Functional exc. to improve physical and functional status and maximize prosthetic use. PT together with Prosthetist were working together during the course of gait training due to her complicated case trying to analyze her gait for better alignment requiring less energy. Challenges was when she developed small wound of Rt short stump, having training on only Lt prosthesis for one-week until wound was healed. In addition, being young adult female, she was very concerned on cosmetic appearance and wanted herself to be tall where it was advised not due to stability goal.

Patient education: Physical exercise program, Stump care, Fall risk assessment, Donning and doffing (considering amputations of fingers), Care of socks and prosthesis, Hygiene education.

Before finishing prosthesis, she was assessed by MDT. Check-up before discharge was made to compare when she comes 1 month later for follow-up

Outcome

  • Pt improved muscle strength ranging between 4 and 4 plus 

  • Pt improved ROM within normal limits. 

  • Pt was able to don and doff prosthesis alone without assistant

  • Pt. improved endurance.

  • Pt. also increased perceived physical function.
  • 
Pt. increased balance where she was challenged to walk without any assistive devices due to her fingers amputations and possibility to develop ulcers.
  • 
Pt. improved gait speed.
This classifies the patient as a community ambulatory.
  • 
Pt also improve TUG score demonstrating increased functional lower extremity strength and decreasing fall risk.
  • 
She was satisfied about the cosmetic appearance of herself, she left the center wearing the tight trousers that she initially wished to wear.

  • One month after discharge, AJ attended the clinic where she reported that she returned back to school.
  • She goes for shopping and parties.
  • Her endurance was progressively improved.
  • 
She was a good model motivating her sister who has the same pathology and same presentation

Discussion

Successful rehabilitation is linked to effective discharge, which allowed AJ to function optimally in her environment. Prosthetic usage expected to be altered or health status to change over time, timely re-evaluation of outcome measures should be performed. Goal was to progressively challenge her endurance by progressing duration of activity and exc intensity.

Bilateral and finger amputations require huge energy consumption. Her concerns on cosmetic appearance challenged both Prosthetist and PT balancing between cosmetic and stability at same time. Young adults are very motivated, it was stressed to focus on skin care, socks care, stump hygiene to avoid complications such as infection and skin breakdown.

Being dependent on wheelchair in country which is not adapted to PwDs is very depressing. Having received prosthesis gave her chance to walk and move without requiring assistance, improve her image. This will encourage her participate in social activities with friends, family and school. Suspension of very short stump was difficult without thigh corset when there was no other option.

It's advised to prescribe wheelchair, as an alternative mode of ambulation if patient cannot wear the prosthesis all day long although emphasized should be placed on using prosthesis. Instead of focusing on patient's diagnosis or disability, ICF encourages to adopt holistic approach that considers all aspects present in someone's life (health condition, environmental and personal factors).

References

  1. Broomhead P, Clark K, Dawes D, Hale C, Lambert A, Quinlivan D, Randell T, Shepherd R, Withpetersen J. (2012)
  2. Evidence Based Clinical Guidelines for the Managements of Adults with Lower Limb Prostheses, 2nd Edition. Chartered Society of Physiotherapy: London.
  3. Chapter 5 in Engstrom (pages 120-149) Exercise programme and pre-prosthetic activities of daily living
(International Classification of Functioning, Disability and Health (ICF)).