ࡱ>    q` ^bjbjqPqP (::VNNN,=....L/0Dt12222 55$5Z\\\\\\$O h jN94" 59922MGMGMG9P82N2ZMG9ZMGMGZ6Nx21 pT.>T\z0! 7@! xx! N56MGe7|7555=G55599990D0D0DD|tDn0D0D0Dtb( MUSCULAR DYSTROPHY DEFINITION Muscular dystrophy is a group of disorders that involve progressive muscle weakness and loss of muscle tissue. Those classified as the muscular dystrophies all have in common a progressive degeneration of striated muscle with no associated abnormality of central nervous system. CLASSIFICATION OF THE MUSCULAR DYSTROPHIES ACCORDING TO PATTERN OF INHERITANCE. 1) X-LINKED RECESSIVE Duchenne Muscular Dystrophy Becker Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy 2) AUTOSOMAL RECESSIVE Limb-Girdle Muscular Dystrophy Congenital Muscular Dystrophy 3) AUTOSOMAL DOMINANT Facioscapulohumeral Dystrophy Myotonic Dystrophy DUCHENNE MUSCULAR DYSTROPHY Most common type and affects BOYS. Caused by genetic problem that makes protein-DYSTROPHIN ( which help cells keep their shape and length) Symptom start usually by the age of 2-6 yrs old, and by the time 12 yrs old, used a wheel chair. Will develop scoliosis and tightness in joints Over time, even muscles that control breathing get weaker, and patient may need ventilator to breathe. Lungs and heart specialist may need. PATHOPHYSIOLOGY The gene that codes for the protein dystrophin is mutated, so little or no dystrophin is present in the sarcolemma. The dystrophin gene is located on the short arm of chromosome X near the p21 locus and codes for the large protein Dp427, which contains 3685 amino acids. Dystrophin accounts for only approximately 0.002% of the proteins in striated muscle, but it has obvious importance in the maintenance of the muscle's membrane integrity (Hoffman et al). Dystrophin aggregates as a homotetramer at the costomeres in skeletal muscles, as well as associates with actin at its N-terminus and the DAG complex at the C-terminus, forming a stable complex that interacts with laminin in the extracellular matrix (Hoffman et al). . Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; these results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD. Without the reinforcing effects of the the dystrophin, the sarcolemma tears easily during muscle contraction, causing muscle rupture and die. There is decrease in the muscle fibers, necrosis, infiltration of fat cells and increase in connective tissues. Muscles eventually reduced to fat and connective tissues. (pseudohypertrophy). CLINICAL FEATURES Symptoms vary with the different types of MD. In Duchenne MD, unless a sibling has been previously affected to warrant a high index of suspicion, no abnormality is noted in the patient at birth, and manifestations of the muscle weakness do not begin until the child begins to walk. Three major time points for patients with Duchenne MD are when they begin to walk, when they lose their ability to ambulate, and when they die. The child's motor milestones may be at the upper limits of normal, or they may be slightly delayed. Some of the delays may be caused by inherent muscle weakness, but a component may stem from brain involvement. Although the association of intellectual impairment in MD has long been recognized, it was initially thought to be a result of limited educational opportunities (Prosser et al, 1969). In addition to mental deficits, another milestone delay is the patient's age at ambulation. Children with Duchenne MD usually do not begin to walk until about age 18 months or later. In the Dubowitz study (1995), 74% of children with Duchenne MD manifested the disease by age 4 years. By age 5 years, awareness increases as the disease is manifested in all affected children when they experience difficulty with school-related activities (eg, getting to the bus, climbing stairs, reciprocal motions during activities). Other early features include a gait abnormality, which classically is a waddling, wide-based gait with hyperlordosis of the lumbar spine and toe walking. The waddle is due to weakness in the gluteus maximus and gluteus medius muscles and the patient's inability to support a single-leg stance. The child leans the body toward the other side to balance his or her center of gravity, and the motion is repeated with each step. Hip extensor weakness also results in a forward tilt of the pelvis, which translates to a hyperlordosis of the spine to maintain posture. The child then walks on his or her tiptoes because it is easier to stay vertical with an equinus foot position than on a flat foot, although no real tendon Achillis contracture exists at this early point. Gradually, noticeable difficulty with step taking by the child is observed. Frequent falls without tripping or stumbling often occur and are described as the feet being swept away from under the child. The child then begins having problems getting up from the sitting or supine position, and he or she can rise to an upright stance only by manifesting the Gower sign.  Gowers sign. While still ambulatory, the child may have minimal deformities, including iliopsoas or tendo Achillis tightness. Mild scoliosis may be present if the child has an asymmetrical stance. Upper-extremity involvement rarely occurs in the beginning, although proximal arm muscle weakness may be evident on manual strength testing. When upper-extremity involvement manifests in later stages of Duchenne MD, it is symmetrical and, along with distal weakness, usually follows a rapid worsening of the child's condition toward being wheelchair bound. The second important phase in Duchenne MD is the loss of ambulation. This usually occurs between the ages of 7 and 13 years, with some patients becoming wheelchair bound by age 6 years. If children with MD are still ambulating after age 13 years, the diagnosis of Duchenne MD should be questioned, because these patients usually have Becker MD, the milder form of MD. Other clinical features include: Muscles weakness that slowly gets worse Frequent fall. Delayed development of muscle motor skills Problems walking (delayed walking) Difficulty using one or more muscle groups Hypertrophied of calf muscles Mental retardation (only in some types of conditions) Hypotonia (low muscle tone) Joint Contractures (clubfoot, claw hand or others) Scoliosis (curves spine) COMPLICATIONS Complications of MD usually include early wheelchair dependence in patients who develop minor musculoskeletal injuries (eg, ankle sprain) and those who are immobilized. Prolonged immobilization worsens the clinical weakness caused by MD and ultimately results in the patient's non-ambulatory status. MEDICAL MANAGEMENT There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms. Corticosteroids- taken by mouth are sometimes prescribed to children to keep them walking for as long as possible and to reduce muscle degeneration. Immunosuppressant- delay damage to dying muscle cell. Antibiotic- fight respiratory infections Orthopedic appliances such as braces and wheelchairs can improve mobility and self-care abilities. The orthopedic problems in children with MD are progressive weakness with loss of ambulatory status, soft-tissue contractures, and spinal deformities. The role of the orthopedic surgeon is to correct the deformities and to help maintain the dystrophic child's ambulatory status for as long as possible, usually 1 to 3.5 years (Brooke et al, 1989; Heckmatt et al, 1985). The modalities available to obtain these goals have been well outlined by Drennan (1990); they include functional testing; physical therapy; use of orthoses; fracture management; soft-tissue, bone, and spinal surgeries; use of a wheelchair when indicated; and genetic and/or psychological testing. Surgery on the spine or legs may help improve function. Despite modern advances in gene therapy and molecular biology, MD remains incurable. With proper care and attention, patients have a better quality of life than they would otherwise, but most still die by the time they are age 30 years, usually as a result of cardiopulmonary failure. CASE STUDY ASESSMENT PATIENTS PROFILE Date of assessment: 12. September. 2007 Unit: Pediatric Gym of Physiotherapy Department, Hospital Malacca. Name: Kid Age: 9 yrs Gender: Male Race: Chinese Hometown: Bukit Baru, Melaka R/N: 5590 Drs Diagnosis: Duchene Muscular Dystrophy Drs Management: Medication Problem: Weakness of both lower limbs SUBJECTIVES ASESSMENT Patients complain: Mother complains that her child had weakness at both lower limb. Her child easily fatigue and had difficulty to stand from sitting, to sit from supine lying and difficulty of climbing stairs. 2) Current Hx: Mother claimed that her child had frequently fall and unable to rise back easily since two years ago. Had being diagnosed as Duchene Muscular Dystrophy and being referred to physiotherapy treatment. 3) Past Medical Hx: -nil- 4) Pain Scale: No pain at the limbs and joints. 4) Home/ social situation: Youngest in family of 3 siblings. Loves to play, R.C car, badminton, cycling, and comp. games. A vegetarian and usually take bowl of rice daily and 2-3 liters of water/day. At school, able to socialized but doesnt involved in any physical activity. Using night splint while sleeping at night. 5) General Health: -Good- 6) Ix/MRI/X-Ray: Latest on March 2007- unavailable 7) Medication: Use alternative medicine- Chinese herbs purposely for legs and waist. OBJECTIVES ASESSMENT Observation General: A thin and medium size of 9 yrs Chinese boy walks into gym with abnormal gait and hyperextended trunk. Moody and give cooperation after being persuaded for several times. Local: Genu-valgus leg Muscle wasting of both LL. Hypertrophied calf muscles. 2) Vocalization: Speak Mandarin fluently BUT little bit Malay. Understand Malay and English minimally. 3) Hearing: NAD 4) Vision: NAD 5) Palpation: TA tightness of both ankle. No contractures of the joints. No swelling of the joints and body. No redness at the joints and body. 6) Range of Motion: JointActiveShoulder Flexion Extension Abduction Adduction Elevation via flexion Elevation via abduction Elbow Flexion Extension Supination Pronation Wrist Flexion Extension Ulnar dev. Radialdev. Rt AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROMLt AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM  JointActivePhalanges Flexion Extension Abduction Adduction Thumb opposition Hip Flexion Extension Abduction Adduction Int.rotate Ext.rotate Knee Flexion Extension Rt AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROMLt AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM AFROM  JointActivePassiveAnkle Dorsiflexion Plantar-flexion Eversion Inversion Rt 0-5 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROMRt 0-15 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROM Interpretation: Limited R.O.M of ankle dorsiflexion due to TA tightness. 7) Muscle tone: Both upper limbs: Normal Both lower limb: Normal 8) Muscle power (Oxford Scale Classification) Upper limbGradeShoulder Flexors Extensors Abductors Adductors b) Elbow Flexors Extensors Supinators Pronator 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5c) Wrist Flexors Extensors Radial deviators Ulnar deviators d) Fingers Flexors Extensors Abductors Adductors 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5Lower limbGradea) Hip Flexors Extensors Abductors Adductors Int. rotators Ext. rotators b) Knee Flexors Extensors Ankle Dorsi flexors Plantar flexors Inverters Everters  3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5 3/5 Interpretation: Reduce muscle power due to myopathic disorder. 9) Reflexes TendonsGrade1) Biceps1+2) Triceps1+3) Knee jerk1+4) Tendon Achilles1+5) Babinski -ve Interpretation: A low normal, diminished reflex and negative Babinski sign. 10. Posture Lumbar lordosis with shoulder and upper trunk thrust backward, with lateral sway back of the trunk. 11) Gait Type: high stepping/ waddling gait a) Stance phase: Increase in anterior pelvic tilt Reduce in hip extension b) Swing phase: Increase in hip flexion characterized by high stepping gait/waddling gait. Lack of dorsiflexion 12) Functional Ability Test for functional ability based on ability to walk. GradeFunctional ability1Walks and climbs stairs without assistance2Walks and climbs stairs with aid of a railing3Walks and climbs stairs slowly with the aid of a railing (over 25 sec for eight standard steps)4Walks unassisted rise from chair but cannot climb stairs.5Walks unassisted but cannot rise from chair and stairs.6Walks only with assistance or walks independently with long leg braces.7Walks in long leg braces but requires assistance for balance.8Stands in long leg braces but unable to walk even with assistance.9Is in wheelchair. Elbow flexors more than antigravity.10Is in wheelchair. Elbow flexors less than antigravity. Also has difficulty to stand from squatting (Gowers sign) Interpretation: Grade 4 13. Balance Testing PositionStaticDynamica) SittingGoodGoodb) StandingFairFairc) Walk standingFairFair Interpretation: Reduce stability in standing and walk standing due to muscle weakness. PROBLEM LISTING Reduce muscle strength of both lower limbs. Lordotic posture while walking and standing. Tightness of Tendon Archilles. 4. Difficulty of climb stairs and stand from squatting. 5. Waddling gait. PHYSIOTHERAPIST IMPRESSION Reduce muscle strength of both lower limbs due to myopathic disorder. Lordotic posture while walking and standing due to relative postural alignment of the upper body. Tightness of Tendon Archilles due to weakness of ankle dorsiflexors. 4. Difficulty of climb stairs and stand from squatting due to weakness of extensor muscles, particularly gluteus maximus. 5. Waddling gait due to weakness of quadriceps, hip extensors and ankle dorsiflexors. AIM OF TREATMENT Short term goal: To reduce muscle tightness. To prevent deformity and soft tissue contracture. To prevent immobility and inactivity, both mental and physical. Long term goal: To ensure the child practice a healthy life- style. To prevent secondary complication. PLAN OF TREATMENT Breathing exercise Stretching exercise Mobilizing exercise Home exercise program (HEP) and patient education. METHOD OF TREATMENT Breathing exercise Position: sitting/standing Method: Deep breathing exercise with 6 repetition 3x/day. 2. Stretching exercise Active stretching: Child standing with pelvis forwards, arms on the wall, heels remain on the ground with knee fully extended, hold for 10sec. Modified push-up done over a wedge or double-pillow with 10 rep, 10 sec hold. Passive stretching: Stretching of calf muscles while pt in supine,10rep, 10 sec hold. Stretching of iliotibial band, pt in prone and knee is flexed and hip fully extended. Pressure given to the pelvis to minimize the lumbar spine movement. Repeat for 10 times, with 10 sec hold. Stretching of hamstring, pt in supine. Knee extended, hip flexed to 60. Repeat for 10 times, with 10 sec hold. 3) Mobilizing exercise Throwing and kicking gym ball for 15 minutes. Pulley exercise for 15minutes. Cyling on stationary bicycle for 15 minutes. 4) Home exercise program Breathing exercise with 6 rep/3x/day. Encouraged the child to play a wind instrument, play games such as blowing a ping pong ball around obstacles to obtain good expansion of the lungs. Stretching exercise done actively of passively at home to prevent soft tissue contracture 5) Carer Education Advice mother to make sure her child do the exercise as taught at home regularly. Encourage the child not to give up while doing the exercises. REASESSMENT ON 14. SEPT. 07 S: Mother claimed that her child do slight exercise at home. Complain of fatigue. O: Pt gives good response Walk with waddling gait, lumbar lordosis with shoulder and upper trunk thrust backward, with lateral sway back of the trunk. 1) R.O.M: Both UL, hip, and knee: AFROM JointActivePassiveAnkle Dorsiflexion Plantar-flexion Eversion Inversion Rt 0-5 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROMRt 0-15 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROMInterpretation: limited R.O.M of ankle d/f due to TA tightness. 2) Muscle tone: Both UL: Normal Both LL: Normal 3) Muscle power ( Oxford Scale Classificaton) Both UL: 3/5 Both LL: 3/5 4)Posture Lumbar lordosis with shoulder and upper trunk thrust backward, with lateral sway back of the trunk. 6) Gait Type: high stepping/ waddling gait a) Stance phase: Increase in anterior pelvic tilt Reduce in hip extension b) Swing phase: Increase in hip flexion characterized by high stepping gait/waddling gait. Lack of dorsiflexion 7) Functional Ability Test for functional ability based on ability to walk GradeFunctional ability1Walks and climbs stairs without assistance2Walks and climbs stairs with aid of a railing3Walks and climbs stairs slowly with the aid of a railing (over 25 sec for eight standard steps)4Walks unassisted rise from chair but cannot climb stairs.5Walks unassisted but cannot rise from chair and stairs.6Walks only with assistance or walks independently with long leg braces.7Walks in long leg braces but requires assistance for balance.8Stands in long leg braces but unable to walk even with assistance.9Is in wheelchair. Elbow flexors more than antigravity.10Is in wheelchair. Elbow flexors less than antigravity. Interpretation: Grade 4 Still has difficulty to stand from squatting (Gowers sign) 9) Reflexes TendonsGrade1) Biceps1+2) Triceps1+3) Knee jerk1+4) Tendon Achilles1+5) Babinski -ve Interpretation: A low normal, diminished reflex and negative Babinski sign. A: Reduce muscle power and poor mobility might due to muscular disorder. P: 1) Breathing exercise Position: sitting/standing Method: Deep breathing exercise with 6 repetition. 2) Passive stretching: a) Stretching of calf muscles while pt in supine,10rep, 10 sec hold. b) Stretching of iliotibial band, pt in prone and knee is flexed and hip fully extended. Pressure given to the pelvis to minimize the lumbar spine movement. Repeat for 10 times, with 10 sec hold. c) Stretching of hamstring, pt in supine. Knee extended, hip flexed to 60. Repeat for 10 times, with 10 sec hold. 2) Mobilizing exercise Throwing and kicking gym ball for 15 minutes. Pulley exercise for 15minutes. 3) Home exercise program Breathing exercise with 6 rep/3x/day. Active and passive stretching exercise with 10 rep/3x/day. Mobilizing exercise, walking at the park for 15 minutes. 4) Patient education Advice patient to do the exercise as taught regularly and encourage the child to continue the exercises at home. REASESSMENT ON 18.SEPT. 07 S: Mother claimed that her child willing to do some exercises at home. Complain of fatigue after doing the exercise. O: Pt gives good response. Still walk with waddling gait, lumbar lordosis with shoulder and upper trunk thrust backward, with lateral sway back of the trunk. 1) R.O.M: Both UL, hip, and knee: AFROM JointActivePassiveAnkle Dorsiflexion Plantar-flexion Eversion Inversion Rt 0-7 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROMRt 0-15 AFROM AFROM AFROMLt AFROM AFROM AFROM AFROMInterpretation: limited R.O.M of ankle d/f due to TA tightness. 2) Muscle tone: Both UL: Normal Both LL: Normal 3) Muscle power (Oxford Scale Classificaton) Both UL: 3/5 Both LL: 3/5 4) Posture Lumbar lordosis with shoulder and upper trunk thrust backward, with lateral sway back of the trunk. 6) Gait Type: high stepping/ waddling gait. a) Stance phase: Increase in anterior pelvic tilt. Reduce in hip extension. b) Swing phase: Increase in hip flexion characterized by high stepping gait/waddling gait. Lack of dorsiflexion 7) Functional Ability Test for functional ability based on ability to walk GradeFunctional ability1Walks and climbs stairs without assistance2Walks and climbs stairs with aid of a railing3Walks and climbs stairs slowly with the aid of a railing (over 25 sec for eight standard steps)4Walks unassisted rise from chair but cannot climb stairs.5Walks unassisted but cannot rise from chair and stairs.6Walks only with assistance or walks independently with long leg braces.7Walks in long leg braces but requires assistance for balance.8Stands in long leg braces but unable to walk even with assistance.9Is in wheelchair. Elbow flexors more than antigravity.10Is in wheelchair. Elbow flexors less than antigravity. Interpretation: Grade 4 Still has difficulty to stand from squatting (Gowers sign) 9) Reflexes TendonsGrade1) Biceps1+2) Triceps1+3) Knee jerk1+4) Tendon Achilles1+5) Babinski -ve Interpretation: A low normal, diminished reflex and negative Babinski sign due to myopathic disorder. A: Reduce muscle power and poor mobility might due to muscular disorder. Able to do the active stretching exercise better. P: 1) Breathing exercise with thoracic expansion Position: Standing Method: Deep breathing exercise with elevation of both arm, 6 repetition. 2) Passive stretching: a) Stretching of calf muscles while pt in supine,10rep, 10 sec hold. b) Stretching of iliotibial band, pt in prone and knee is flexed and hip fully extended. Pressure given to the pelvis to minimize the lumbar spine movement. Repeat for 10 times, with 10 sec hold. c) Stretching of hamstring, pt in supine. Knee extended, hip flexed to 60. 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