Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1

NCT04712422 | Completed

• 1 other identifier: 24C020
• Study Type: observational
• Target: 42
• Locations: 1 country
• Sites: 2

Brief Summary

Impairment of balance and gait are frequent complaints in patients with myotonic dystrophy type 1 (DM1). In these persons, there is an increased risk for stumbles and falls when compared to normal subjects. An underestimated cause of falls might be the weakness of neck flexor muscles (due to cervical ataxia). It is well known that fibres of muscle spindles are receptors combining a specialized sub-set of muscle fibers with a specialized array of both sensory and motor nerve fibers. Spindles transduce into neural afferent discharges the muscle length and length changes. They are very dense in deep neck muscles, are crucial to body balance and gage orientation, and are severely affected in DM1. Preliminary results suggest that falls could reflect imbalance. These indicate that cervical ataxia may come into play because of muscle spindle fibre disruption. In light of the current knowledge on the physiology of balance and on the association between balance deficits and cervical dystonia in other clinical conditions (e.g., whiplash injury), a rationale is therefore offered to a confirmation of the hypothesis that DM1 patients may suffer from cervical ataxia. The primary endpoint is the demonstration of an association between balance deficits in standing and cervical proprioception deficit in adults affected by Myotonic dystrophy 1. Secondary endpoints are:

• the investigation of the correlation among the two deficits and the clinical conditions of patients,
• the definition of normative data in the measure of cervical proprioception in a sample of healthy participants. It is expected that high scores in postural balance, obtained on the posturographic Equitest™-Sensory Organization Test-SOT, correspond to high levels of repositioning accuracy in tests of cervical repositioning and low SOT scores correspond to low accuracy. Moreover, it is expected that an association exists among the two deficits and the clinical situation of the patients. Results from the present pilot study will allow an estimate of the sample size for future experimental protocols. The evidence for an association between balance deficits and cervical ataxia would be of obvious relevance to the patients. This would also support the hypothesis that neck muscle spindles may be especially affected in DM1. This would highlight that muscles are also crucial sensory organs, involved in the perception of joint position, muscle strength, and fatigue. Results from the present study might allow the definition of new rehabilitative programs, such as treatments through a neck strengthening (and thus stiffening) exercise program. This study, therefore, might stimulate new research hypothesis at the neurophysiologic level and possibly lead to findings generalizable from DM1 to other forms of myopathy.

Conditions

Myotonic Dystrophy 1

Keywords

Myotonic Dystrophy 1; Accidental falls; Ataxia; Postural balance; Rehabilitation

Outcome Measures

Primary Outcomes (1)

• SOT score

  The patient's task is to maintain an upright stance during 3 20 s trials under six different conditions, including platform and visual surround 'tuned' with individual's sagittal oscillation. The SOT score will be calculated by comparing the sagittal oscillation of the body's centre of mass (COM) to the maximal sagittal oscillation. Score is averaged across the six conditions (range 0 - 100 the higher the score, the lower the oscillation).

  Day 1

Secondary Outcomes (1)

• Head Repositioning Accuracy, HRA

  Day 1

Study Arms (2)

Healthy participants

At least 25 healthy participants aged from 18 to 50 years old. Participants will be excluded if pregnant.

Other: Healthy subjects

Pathologic group

At least 22 participants with diagnosis of Myotonic Dystrophy 1.

Other: Pathologic group

Interventions

Healthy subjects OTHER

Participants will be tested for their foot dominance by means of the Waterloo footedness questionnaire-revised, their hand dominance by means of the Edinburgh inventory, and their eyedness Coren's Lateral Preference Inventory. Participants will perform a cervical repositioning test. They will seat in a chair in front of a Plexiglas screen with the eye closed. The operator will guide the participant in four positions: at 30° right/left rotation and at 25° extension/flexion. The participant will be then asked to reproduce the angle. Each movement will be repeated four times in a random order. The whole sequence will be repeated by another second operator. Both the tests will be repeated after two weeks. Head movements will be detected using an optoelectronic system using passive markers positioned on the head of the participant.

Healthy participants

Pathologic group OTHER

Clinical evaluation of the participants will be performed by means of the Myotonic Dystrophy Health Index (MDHI), the Rivermead Mobility Index (RMI), the Fall Events Questionnaire, and the Dizziness Handicap Inventory- short form (DHIsf). Participants will perform a cervical repositioning test. Participants will seat in a chair in front of a Plexiglas screen with the eye closed. The operator will guide the participant in four positions: at 30° right/left rotation and at 25° extension/flexion. The participant will be then asked to reproduce the angle. Each movement will be repeated four times in a random order. Head movements will be detected using an optoelectronic system using passive markers positioned on the head of the participant. Participants will then perform test of balance in standing, using the EquiTest platform. Individuals will be requested to perform three different tasks: sensory organization test, adaptation test-upward tilt, and adaptation test-downward tilt.

Pathologic group

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The participants will be recruited in the NeuroMuscolar Omniservice (NEMO) clinical centre, on an outpatient basis, from a physiatric referral, or from an inpatient rehabilitation unit.

You may qualify if:

• Diagnosis of DM1 since at least 5 years;
• Ability to stand erect with open eyes for at least 20 s;
• Rivermead Mobility Index (RMI) score ≥ 10/15;
• Visual acuity \> 10/20, also with corrective lenses;
• Mini Mental State Examination (MMSE) score ≥ 26/30;
• ability to wittingly sign the informed consent form.

You may not qualify if:

• neurological or orthopedic pathologies with impact on balance;
• pregnancy;
• previous orthopedic surgical intervention;
• head or neck trauma in the 6 months preceding the study;
• other pathological conditions which could alter balance;
• drug therapy, underway for less than one month before the study, with impact on balance.

Sponsors & Collaborators

• Istituto Auxologico Italiano: lead
• Fondazione Serena Onlus - Centro Clinico NeMO Milano: collaborator

Study Sites (2)

Istituto Auxologico Italiano

Milan, MI, 20121, Italy

Location

The NEuroMuscular Omnicentre (NEMO) Clinical Center

Milan, MI, 20162, Italy

Location

Related Publications (16)

• Galli M, Cimolin V, Crugnola V, Priano L, Menegoni F, Trotti C, Milano E, Mauro A. Gait pattern in myotonic dystrophy (Steinert disease): a kinematic, kinetic and EMG evaluation using 3D gait analysis. J Neurol Sci. 2012 Mar 15;314(1-2):83-7. doi: 10.1016/j.jns.2011.10.026. Epub 2011 Nov 25.

  PMID: 22118863 BACKGROUND

• Jimenez-Moreno AC, Raaphorst J, Babacic H, Wood L, van Engelen B, Lochmuller H, Schoser B, Wenninger S. Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. Neuromuscul Disord. 2018 Mar;28(3):229-235. doi: 10.1016/j.nmd.2017.12.010. Epub 2017 Dec 27.

  PMID: 29361394 BACKGROUND

• Pieterse AJ, Luttikhold TB, de Laat K, Bloem BR, van Engelen BG, Munneke M. Falls in patients with neuromuscular disorders. J Neurol Sci. 2006 Dec 21;251(1-2):87-90. doi: 10.1016/j.jns.2006.09.008. Epub 2006 Nov 9.

  PMID: 17097113 BACKGROUND

• Hammaren E, Kjellby-Wendt G, Kowalski J, Lindberg C. Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 - a cross-sectional study - including reference values of Timed Up & Go, 10m walk and step test. Neuromuscul Disord. 2014 Mar;24(3):207-15. doi: 10.1016/j.nmd.2013.12.003. Epub 2013 Dec 15.

  PMID: 24412157 BACKGROUND

• Proske U, Gandevia SC. The proprioceptive senses: their roles in signaling body shape, body position and movement, and muscle force. Physiol Rev. 2012 Oct;92(4):1651-97. doi: 10.1152/physrev.00048.2011.

  PMID: 23073629 BACKGROUND

• Sansone VA, Lizio A, Greco L, Gragnano G, Zanolini A, Gualandris M, Iatomasi M, Heatwole C. The Myotonic Dystrophy Health Index: Italian validation of a disease-specific outcome measure. Neuromuscul Disord. 2017 Nov;27(11):1047-1053. doi: 10.1016/j.nmd.2017.07.004. Epub 2017 Jul 10.

  PMID: 28890289 BACKGROUND

• Tesio L, Alpini D, Cesarani A, Perucca L. Short form of the Dizziness Handicap Inventory: construction and validation through Rasch analysis. Am J Phys Med Rehabil. 1999 May-Jun;78(3):233-41. doi: 10.1097/00002060-199905000-00009.

  PMID: 10340421 BACKGROUND

• Tesio L, Rota V, Longo S, Grzeda MT. Measuring standing balance in adults: reliability and minimal real difference of 14 instrumental measures. Int J Rehabil Res. 2013 Dec;36(4):362-74. doi: 10.1097/MRR.0000000000000037.

  PMID: 24185405 BACKGROUND

• Beinert K, Taube W. The effect of balance training on cervical sensorimotor function and neck pain. J Mot Behav. 2013;45(3):271-8. doi: 10.1080/00222895.2013.785928.

  PMID: 23663191 BACKGROUND

• Loudon JK, Ruhl M, Field E. Ability to reproduce head position after whiplash injury. Spine (Phila Pa 1976). 1997 Apr 15;22(8):865-8. doi: 10.1097/00007632-199704150-00008.

  PMID: 9127919 BACKGROUND

• Grip H, Sundelin G, Gerdle B, Karlsson JS. Variations in the axis of motion during head repositioning--a comparison of subjects with whiplash-associated disorders or non-specific neck pain and healthy controls. Clin Biomech (Bristol). 2007 Oct;22(8):865-73. doi: 10.1016/j.clinbiomech.2007.05.008. Epub 2007 Jul 9.

  PMID: 17619066 BACKGROUND

• Ferrario VF, Sforza C, Serrao G, Grassi G, Mossi E. Active range of motion of the head and cervical spine: a three-dimensional investigation in healthy young adults. J Orthop Res. 2002 Jan;20(1):122-9. doi: 10.1016/S0736-0266(01)00079-1.

  PMID: 11853078 BACKGROUND

• Mortensen JD, Vasavada AN, Merryweather AS. The inclusion of hyoid muscles improve moment generating capacity and dynamic simulations in musculoskeletal models of the head and neck. PLoS One. 2018 Jun 28;13(6):e0199912. doi: 10.1371/journal.pone.0199912. eCollection 2018.

  PMID: 29953539 BACKGROUND

• Vasavada AN, Hughes E, Nevins DD, Monda SM, Lin DC. Effect of Subject-Specific Vertebral Position and Head and Neck Size on Calculation of Spine Musculoskeletal Moments. Ann Biomed Eng. 2018 Nov;46(11):1844-1856. doi: 10.1007/s10439-018-2084-9. Epub 2018 Jul 9.

  PMID: 29987540 BACKGROUND

• Vasavada AN, Li S, Delp SL. Influence of muscle morphometry and moment arms on the moment-generating capacity of human neck muscles. Spine (Phila Pa 1976). 1998 Feb 15;23(4):412-22. doi: 10.1097/00007632-199802150-00002.

  PMID: 9516695 BACKGROUND

• Tesio L. Outcome measurement in behavioural sciences: a view on how to shift attention from means to individuals and why. Int J Rehabil Res. 2012 Mar;35(1):1-12. doi: 10.1097/MRR.0b013e32834fbe89.

  PMID: 22315141 BACKGROUND

MeSH Terms

Conditions

Myotonic Dystrophy; Ataxia

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dyskinesias; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Luigi Tesio, MD, Full professor

  Istituto Auxologico Italiano

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 13, 2021
• First Posted: January 15, 2021
• Study Start: October 27, 2020
• Primary Completion: October 13, 2021
• Study Completion: December 31, 2022
• Last Updated: February 20, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will share

Locations

IT (2)