dystrophie otot

Distrofi Otot (Muscular Dystrophy)By Irfan Maulana, Ns., M.Kep., Sp.KMB

Seorang anak usia 7 tahun datang dengan kelemahan progresif dari kedua kaki selama 4 tahun.

Definisi

Sekelompok gangguan non inflamasi yg diturunkan

degeneratif progresif dan kelemahan otot rangka

tanpa gangguan sistem saraf perifer/saraf pusat

Klasifikasi

Sex-linked: Duchenne MD, Becker MD,

Emery-Dreifuss MD Autosomal recessive: Limb-Girdle

(LGMD), infantile FSHD Autosomal dominant:

Facioscapulohumeral (FSHD), distal MD, ocular MD, oculopharyngeal MD.

Duchenne Muscular dystrophy

Guillaume Benjamin Amand Duchenne (French neurologist, 1860s)


Etiologi single gene

defect Xp21.2 region absent

dystrophin

DMD: pathology

DMD: Epidemiology paling sering laki-laki, sindrom

Turner 1:3500 kelahiran

hidup laki-laki 1/3 mutasi baru 65% riwayat

keluarga

DMD: Manifestasi Klinik Onset: usia 3-6

tahun Kelemahan progresif Pseudohipertrofi otot

betis Deformitas tulang

belakang Ganguan

cardiopulmonary Mild – moderat Mitral

Regurgitasi

Pseudohypertrhophy otot betis, Tip toe gait miring ke depan panggul, lordosis kompensasi

Hilangnya lordosis saat duduk

DMD: Diagnosis

Gower’s sign

DMD: Diagnosis

Gaya berjalan Tdk adanya DTR Ober test Thomas test Meyerson sign Macroglossia Kerusakan

Myocardial IQ ~ 80

Peningkatan CPK (200x)

Perubahan Myopathic pd EMGBiopsi: m. degeneration

Immunoblotting: Tdk adanya dystrophin

Analisis mutasi DNA

Western blotNormal dystrophin bands (230kD)

DMD: Riwayat perkembangan penyakit

Perkembangan penyakit perlahan dan terus menerus

Kelemahan otot Dari bawah ->

ekstremitas atas Tidak dapat berjalan:

pd usia 10 tahun (7-12) kematian akibat gagal jantung/paru : 20-30 thn

DMD: Treatment Prednisolone Dystrophin

replacement Maintain function

Physical Medicine and Rehabilitation (PMR)

orthosis cardiopulmonary

Tx Counselling

http://thecenteroregon.com/services/physical-medicine-and-rehabilitation/

http://thecenteroregon.com/services/physical-medicine-and-rehabilitation/

DMD: Treatment .......lanjutan

Pembedahan Foot & ankle: melepas tendon Achillis

& Tibialis posterior Knee: melepas tendon Yount &

hamstring release Hip: Ober, modified Soutter procedure

An 8-yr-old boyUnable to stand

Percut. TenotomyAchillis tendon

Ambulate with orthosis



Pembedahan Upper extremity: - Spinal deformity: posterior spinal fusion +

pelvis

Becker muscular dystrophy

Peter Emil Becker (German doctor, 1950s)


Lebih ringan dari DMD

Etiology cacat tunggal gen Lengan pendek

chromosome X Perubahan ukuran

& penurunan jml dystrophin

BMD: Epidemiology

Jarang1: 30.000 kelahiran hidup laki-laki

Tidak terlalu parah Riwayat keluarga: atipikal MD

BMD: Clinical manifestation

Lebih ringan dibandingkan DMD Onset: usia> 7 tahun Pseudohipertrofi betis Equinous dan varus kaki Kebanyakan mengalami skoliosis Gangguan jantung lebih jarang

BMD: Diagnosis Sama dengan

DMD Peningkatan CPK

(<200x) Penurunan

dystrophin dan atau b’kurangnya ukuran

BMD

Riwayat penyakit perkembangan

lebih lambat ambulasi sampai

remaja harapan hidup

lebih lama

Treatment Sama dengan

DMD Fore foot

equinous: melepas plantar, midfoot dorsal-wedge osteotomy

Emery-Dreifuss muscular dystrophy

Epidemiology Male: typical

phenotype/ dominan

Female carrier: partial

Etiology X-linked

recessive Xq28 Emerin protein

(in neuclear membrane)

EDMD: Clinical manifestation Kelemahan otot Contracture

Neck extension, elbow (siku), tendon

EDMD: Clinical manifestation

Umumnya scoliosis: perkembangan lambat

Bradycardia, 1st degree AV block sudden death

EDMD

Diagnosis Gower’s sign (tdk

bs membungkuk) Mildly/moderately

elevated CPK EMG: myopathic Normal dystrophin

Riwayat penyakit 10 thn pertama:

kelemahan ringan Tahap lanjut:

contracture, cardiac abnormality

50-60 th: dpt berjalan

Prognosis buruk pada obesitas, kontraktur equinus yg tdk diatasi.

EDMD: Treatment Physical therapy

Prevent contracture: neck, elbow, paravertebral muscles

For slow progress elbow flexion contracture Soft tissue contracture

Achillis lengthening, posterior ankle capsulotomy + anterior transfer of tibialis posterior

Spinal stabilization For curve > 40 degrees

Cardiologic intervention Cardiac pacemaker

Limb-girdle muscular dystrophy

Eitology Autosomal recessive at chromosome

15q Autosomal dominant at 5q

Epidemiology Common More benign


an absence of functional sarcoglycans components of the dystrophin glycoprotein complex (DCG).

Other LGMD result from the absence of functional caveolin-3


Clinical manifestation Onset usia: 30 thn

an Mengenai otot

pinggul – bahu

LGMD

Classification Pelvic girdle

type common

Scapulohumeral type

rare

Diagnosis Same clinical as

DMD/BMD carriers

Moderately elevated CPK

Normal dystrophin

LGMD

Natural history Slow

progression After onset >

20 y: contracture & disability

Rarely significant scoliosis

Treatment Similar to DMD Scoliosis: mild,

no Rx.

Fascioscapulohumeral muscular dystrophy

Etilogy Autosomal

dominant Gene defect

(FRG1) Chromosome

4q35 Epidemiology

Female > male

Clinical manifestation Age of onset:

late childhood/ early adult

No cardiac, CNS involvement

FSMD: Clinical manifestation

Muscle weakness face, shoulder,

upper arm

Sparing Deltoid Distal pectoralis

major Erector spinae

“Popeye” appearance Lack of facial

mobility Incomplete eye

closure Pouting lips Transverse smile Absence of eye

and forehead wrinkles

FSMD: Clinical manifestation

Winging scapula Markedly

decreased shoulder flexion & abduction

Horizontal clavicles

forward sloping

Rare scoliosis

FSMD

Diagnosis PE, muscle

biopsy Normal serum

CPK Natural history

Slow progression

Face, shoulder m. pelvic girdle, tibialis ant

Good life expectancy

Treatment Posterior

scpulocostal fusion/ stabilization (scapuloplexy)

Distal muscular dystrophy

Autosomal dominant trait

Rare Dysferlin (mb prot)

defect Age of onset: after

45 y

Distal muscular dystrophy

Initial involvement: intrinsic hands, claves, tibialis posterior

Spread proximally Normal sensation

DD: Classification Welander distal myopathy Finnish/Markesbery distal myopathy Miyoshi distal myopathy Nonaka distal myopathy Gower: autosomal dominant, Chromosome 14 Hereditary inclusion-body myositis Hereditary inclusion-body myuositis Distal myopathy with vocal cord & pharyngeal

weakness

Congenital muscular dystrophy

Etiology Autosomal recessive Integrin, fugutin defect

Laminin 2 chainmerosin

CMD: Epidemiology

Rare Both male and female

Classification Merosin-negative Merosin-positive Neuronal migration

Fukuyama Muscle eye-brain Wlaker-Warburg

CMD: Clinical manifestation

Stiffness of joint Congenital hip

dislocation, subluxation

Achillis tendon contracture, talipes equinovarus

Scoliosis

CMD

Diagnosis Muscle Bx:

Perimysial and endomysial fibrosis

Treatment Physical

therapy Orthosis Soft tissue

release Osteotomy

Nursing Diagnosis Gangguan mobilitas fisik Intoleransi aktivitas Risiko cedera Risiko gangguan integritas kulit Defisit perawatan diri Rendah diri, isolasi sosial, gangguan

citra tubuh.

Nursing Implications and interventions: Melibatkan multidisiplin, melibatkan

terapi fisik, terapi okupasi, terapi wicara, terapi psikososial, dan ahli diet.

Memperkuat teknik belajar di semua terapi di atas.

Edukasi klien dan anggota keluarga secara menyeluruh tentang hasil yang diharapkan dan kemungkinan munculnya masalah.

Nursing intervention..... lanjutan

Mendorong pasien utk latihan Ingatkan saat latihan berlebihan: merasa

lemah dari setelah latihan, nyeri otot yang berlebihan, kram otot parah, dan sesak.

Pastikan alat bantu cocok untuk mencegah ulkus tekanan dan meningkatkan stabilitas.

Pastikan pasien memiliki peralatan (ortosis, kursi roda.

Peka terhadap kebutuhan psikososial dan melaksanakan rujukan yang tepat.

Libatkan kelompok-kelompok pendukung.

SummaryClinical DMD LGMD FSMD DD CMD

Incidence Common/ sering

Less/ kurang

Not common

Rare/ sangat jarang

Rare

Age of onset

3-6 y 2nd decade

2nd decade

20-77 y At/ after birth

Sex Male Either sex M = F Either sex Both

Inheritance

Sex-linked recessive

AR, rare AD

AD AD Unknown

Muscle involve.

Proximal to distal

Proximal to distal

Face & shoulder to pelvic

Distal Generalized

Muscle spread until late

Leg, hand, arm, face, larynx,eye

Upper ex, calf

Back ext, hip abd, quad

Proximal -

SummaryClinical DMD LGMD FSMD DD CMDPseudohypertrophy

80% calf

< 33% Rare no No

Contracture Common Late Mild, late Mild, late Severe

ScoliosisKyphoscoliosis

Common, late

Late - - ?

Heart Hypertrophytachycardia

Very rare/ jarang

Very rare Very rare Not observed

Intellectual decrease Normal Normal Normal ?

Course Stead, rapid

Slow Insidious benign Steady

Thank you

dystrophie otot

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