Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1

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Brief Title

Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1

Official Title

Poor Neck Proprioception May Cause Balance Deficits in Myotonic Dystrophy 1

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.
    



Study Type

Observational


Primary Outcome

SOT score

Secondary Outcome

 Head Repositioning Accuracy, HRA

Condition

Myotonic Dystrophy 1

Intervention

Healthy subjects

Study Arms / Comparison Groups

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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

22

Start Date

October 27, 2020

Completion Date

December 31, 2022

Primary Completion Date

December 31, 2022

Eligibility Criteria

        Inclusion Criteria:

          -  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.

        Exclusion Criteria:

          -  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.
      

Gender

All

Ages

18 Years - 50 Years

Accepts Healthy Volunteers

No

Contacts

Luigi Tesio, MD, Full professor, +390258218151, [email protected]

Location Countries

Italy

Location Countries

Italy

Administrative Informations


NCT ID

NCT04712422

Organization ID

2020_07_21_06


Responsible Party

Principal Investigator

Study Sponsor

Istituto Auxologico Italiano

Collaborators

 The NEuroMuscular Omnicentre (NEMO) Clinical Center

Study Sponsor

Luigi Tesio, MD, Full professor, Principal Investigator, Istituto Auxologico Italiano


Verification Date

March 2022