We asked some Neurologists specialised in SMA to share their opinion about different aspects of the disease and of their patients' lives.
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
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NATURAL HISTORY
NATURAL HISTORY
DISEASE STABILISATION
DISEASE IMPACT
QUALITY OF LIFE
THE NATURAL HISTORY OF SMA
The natural history for patients with SMA is a progressive loss of motor function, often including ambulation, regardless of age and disease subtype.1
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Dr Nathalie Goemans
Head of the Neuromuscular Reference Centre, Paediatrics and Child Neurology, University Hospitals Leuven.
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“Now we see the patients frequently and now we recognize that SMA during adulthood is a progressive disease.”
Prof. Tim Hagenacker
Chief Senior Physician, Clinic of Neurology, Essen University Hospital.
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Loss of motor function can impact a patient’s ability to perform daily routine tasks and, as a result, their independence.
Motor skills are acquired as normal in the pre-clinical phase of the disease2
Muscle wasting progresses with age; however, progression may be slow or imperceptible2
This is followed by a slowing in the acquisition of motor skills, which is associated with clinically observed weakness2
Progressive loss in motor function is observed over time, with the inability to walk independently occurring around the age of 12 years2
Proactive care by both clinicians and family are of paramount importance.3
Progressive motor function loss in late-onset SMA Type II and III adults
SMA II (n=41), SMA III (n=38), Overall (N=79)Adapted from Kaufmann et. al. 2012
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IN ADULTS LIVING WITH SMA, DISEASE STABILISATION IS A MAJOR GOAL3
Stabilisation of motor function is an important goal for adults living with SMA.3
In a European survey, 81% of patients and their caregivers reported disease stabilisation would represent major progress.3 With improved and emerging standards of care, increasing numbers of SMA patients will reach adulthood.
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“The main treatment goal in the Adult patients is a stabilisation of the disease course… of motor function… of the ability to breathe and to speak language”
Prof. Christoph Kleinschnitz
Director of the Clinic for Neurology, Essen University Hospital
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WHAT FUNCTIONS ARE IMPORTANT FOR ADULTS LIVING WITH SMA?
In a European patient survey 822 patients with SMA type II and III and their caregivers were asked which motor function they would wish to preserve.3
Can you guess which motor function was prioritized by 37% of respondents?
a. Wash independently b. Using a keyboard c. Self-feeding
Learn more about what matters to people living with later onset SMA and how you can support them in preserving their independence.
HOW WELL DO WE CAPTURE IMPACT OF FUNCTION ON QUALITY OF LIFE IN ADULTS LIVING WITH SMA?
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“If we want to pick up that the patient moves better one finger, that is not something we see in the scales - but patients do report it.”
Dr. Vivian Drory
Tel Aviv Sourasky Medical Center
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When it comes to objective measures for SMA in adult patients, Dr Vivian Drory noted that:“We do not have good measures for adult patients” [and] “We do not have measures for very small changes”
Measuring scales reflect relatively large changes, but small changes are important for patients in their daily life. In practice, patient-reported improvements need to be taken into consideration when assessing function. Dr Vivian Drory said, “They can do some tasks easier than before – but it is not something that we can measure readily.”
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“Do[ing] some daily things which the patients had maybe forgotten they could do…is captured by their perception and maybe less by the magnitude of the numbers.”
Dr. Valeria Sansone
NEuroMuscular Omnicentre, Milan
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“[We] know how much a discrepancy there is between the muscle strength and the muscle function and what the perceptions the patients have”
Dr. Valeria Sansone,
Centro Clinico NEMO, Italy
When asked about function that is meaningful to patients, it was found that these are not always reflected in the traditional scales. Dr. Valeria Sansone said, “if you need to move from a zero to a 1 or a 2 – it is a big function that has to change”.
In addition, the differences between timepoints may not reflect the real benefit, requiring the need to work on these outcome measures to capture these changes.
Dr. Valeria Sansone speaks how patients' perceptions can be measured and elaborates on a semistructured qualitative interview with patients and their primary caregivers. Dr. Valeria Sansone said, “We are trying to match the perceptions of the patients and caregivers to what the real scales are saying.”
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.
References
1. Kaufmann P, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurol 2012;79:1889-1897.
2. Swoboda KJ, et al. Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol 2007;22(8):957-966.
3. Rouault F, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscul Disord 2017;27(5):428-438.
4. Wadman RI, Wijngaarde CA, Stam M, et al. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with SMA types 1c-4. Eur J Neurol 2018;25(3):512-518.
Loss of motor function can impact a patient’s ability to perform daily routine tasks and, as a result, their independence. 
