Investigation Of Factors Affecting Hand Functions in Nonambulatory Patients With Duchenne Muscular Dystrophy
Condition: Duchenne Muscular Dystrophy
MeSH terms: Muscular Dystrophies; Muscular Dystrophy, Duchenne
Study type: Observational

Summary: 
      The aim of this study, determining the factors affecting the hand functions of children with
      Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and
      determining the effects on the overall upper extremity performance and quality of life of the
      determined factors.
    

Detailed description: 
      Duchenne Muscular Dystrophy (DMD) is the most common neuromuscular disease seen in childhood.
      DMD is an X linked recessive disorder. DMD is characterized by complete or partial (<3%)
      deficiency of the cell membrane protein dystrophin.

      Dystrophin deficiency results in a permanent deterioration of muscle fibers. This leads to a
      progressive decrease in muscle strength and functional abilities. The precise mechanism of
      how the defect of dystrophin leads to degeneration of muscle fibers remains uncertain, but
      cytoskeletal deterioration, sarcolemmal instability and abnormal calcium homeostasis are
      thought to play a role in this degeneration.

      These patients have symptoms such as limb proximals and progressive muscle weakness in the
      trunk, gait abnormalities, Gower's sign, various degrees of restriction in daily living
      activities, and frequent falls. The majority of patients have elevated serum creatine kinase
      or elevated liver transaminases and less frequently language or general developmental
      retardation.

      Walking ability of this children begins to deteriorate between the ages of 3-6. These
      patients are generally dependent on wheelchair aged 10-12 years. The loss of walking is the
      milestone in terms of the progression of the disease. The use of electric wheelchairs limits
      arm functions such as lengthening and lifting during the late phase of the illness (when the
      ambulance has been lost and the ambulance is being continued with the wheelchair).

      Patients with DMD have an average life span of 30 years with spinal surgery and ventilation
      support. They spend most of their lives dependent on the wheelchair and need functional use
      of the upper limbs to maintain the best possible level of independence in their daily life
      activities throughout their lifetimes.

      Although muscle weakness in the proximal limbs is the first finding of the disease, the
      influence of upper extremity functions gives symptoms after 8 years of age and has a great
      influence on the level of independence of DMD patients in life since this process. For this
      reason, rehabilitation approaches for the protection of upper extremity functions from the
      early period of the disease are of great importance.Effective interventions are necessary to
      achieve this goal and these variables must be considered when making clinical decisions.

      Patients with adult DMD have been shown to be able to perform important functional activities
      with limited distal motor function in the late phase of disease, but tend to lose these
      capacities as muscle strength decreases. For this reason, determining the factors (grip
      strength, thumb opposition, upper extremity joint range of motion, upper extremity muscle
      strength, etc.) that may affect hand functions, which is an important component in
      maintaining upper extremity functioning, and how these factors are related to the general
      functions of the upper extremity it is crucial that this disease leads to physiotherapy
      rehabilitation programs to be implemented.
    

Observational model: Case-Only
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Patients who applied to the Pediatric Neuromuscular Diseases Unıt of Hacettepe University
        Physiotherapy and Rehabilitation Department
      
Keywords: Duchenne Muscular Dystrophy; Upper limb; Hand functions; Performance; Grip Strength