Mitochondrial Membrane Protein Neurodegeneration (MPAN)
Condition: MPAN
Study type: Interventional

Summary: 
      The purpose of this case study was to investigate the effects of therapeutic intervention in
      9- and 12-year-old brothers with MPAN. The main hypothesis it aims to answer is:

      -A 6-week balance and coordination focused rehabilitation program improves independence and
      gait parameters in patients with MPAN.
    

Detailed description: 
      Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of
      disorders with accumulation of iron in the brain, mostly basal ganglia. Mutations within
      C19orf12 have recently been identified in patients with NBIA. This C19orf12 gene -located in
      mitochondria and endoplasmic reticulum- encodes a mitochondrial membrane protein and the
      abbreviation MPAN. Pathogenic mutations in this gene are postulated to cause dysfunction of
      lipid homeostasis in mitochondria.

      Patients with MPAN typically present with gait disturbance due to lower limb spasticity and
      dystonia, parkinsonism with subsequent spastic paresis, dysarthria, cerebellar ataxia,
      behavioral problems, dementia, psychomotor delay, peripheral neuropathy, visual changes like
      optic atrophy as well as bowel/bladder incontinence; however, MPAN has a greater variability
      compared with other NBIA cases in terms of age of onset (age three to 30 years) and speed of
      progression.

      This study aims to investigate the effects of therapeutic intervention in male brothers, age
      9 and 12, with MPAN. In particular, this study tested the following hypotheses after 6 weeks
      of rehabilitation by measuring muscle strength, muscle tone, range of motion , balance and
      coordination: (1) After the training period, muscle strenght, muscle tone and range of motion
      would be improved, (2) these developments in body function can lead to increase balance and
      coordination, and (3) due to the these improvements, functional independency may increase.
    

Intervention name(s): Passive Stretching; Mobilization; Muscle strengthening; Balance and Coordination
Intervention type(s): Other; Other; Other; Other
Intervention description(s): Sustained passive stretching of hamstring, tendo-achilles, and adductors 10 (30 s, with three repetitions, five times per week); Grade four mobilizations is a stretching motion performed at the talocrural joint with anterior-posterior gliding. Mobilization was performed once a day, 6 times a day, and 5 times a week, only on both deformed feet of the older sibling; Abdominal muscle strengthening exercises were given to both siblings once a day, 10 times a day, 5 times a week. In the supine position, the patients were asked to lie on their knees with the knees flexed. The hip extensors were trained in the prone position on the bed by resisting hip extension; The following exercises were applied 5 times a week, with 1o repetition once a day.
Standing on one leg in front of the mirror,
Tandem walking,
Rhythmic Dynamic Stabilization,
Swiss ball sitting (eyes open and closed),
Counting the alphabet or numbers while marching
Intervention model: Single Group Assignment
Intervention model description: Case Study
Masking: None (Open Label)
Primary purpose: Treatment
Keywords: MPAN; Exercise Therapy; Balance and Coordination