Mitochondrial Membrane Protein Neurodegeneration (MPAN)

Study Overview
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Brief Summary
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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
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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.

Official Title
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The Effect of 6-week Rehabilitation Program in Brothers With MPAN: A Report of Two Cases.

Conditions
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MPAN

Intervention / Treatment
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* Other: Passive Stretching
* Other: Mobilization
* Other: Muscle strengthening
* Other: Balance and Coordination


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Being diagnosed with MPAN Exclusion Criteria: being involved in any other rehabilitation program

Ages Eligible for Study
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Minimum Age: 9 Years
Maximum Age: 14 Years

Sexes Eligible for Study
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Male

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Interventional Model Description: Case Study
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Balance and Coordination<br>Since it is a case study, there will be only one group in the study. | Other: Passive Stretching<br>* Sustained passive stretching of hamstring, tendo-achilles, and adductors 10 (30 s, with three repetitions, five times per week)<br>Other: Mobilization<br>* 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<br>Other: Muscle strengthening<br>* 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<br>Other: Balance and Coordination<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Balance | Balance and coordination will be evaluated with the Pediatric Berg Balance Test. | 6 weeks | 
| Functional İndependence | Functional independence which will evaluate with Functional Independence Measure for Children (WeeFIM). | 6 weeks | 
| Observational Gait Analysis | Gait characteristic will assessed with Observational Gait Analysis (OGA). | 6 weeks | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Balance and Coordination, MPAN, Exercise Therapy