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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Myopathy

(Muscle Disease)

Anwar Wardy W*

08.2509.15

Maret 22, 2010

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Dokter dengan Tingkat

Kemampuan 1Dapat mengenali dan menempatkan gambaran

klinik sesuai penyakit ini ketika membacaliterature.

Dalam korespondensi dapat mengenaligambaran klinik dan tahu bagaimana

mendapatkan informasi lanjut..)))) dosen dll

Overview level: bila hadapi pasien dengangambaran ini dan menduga penyakitnya.

Segera merujuk.

anwar wardy w fkk umj

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Etiology of muscle diseases

hereditary

autoimmune systemic disease

toxic

infectious

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Muscular dystrophies childhood disorders with

progressive muscle

weakness

recessive inheritance,many de novo mutations

Gowers sign

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

X-linked muscular dystrophies

Duchenne (DMD) - small children, Becker(BMD) - young adults

frequent new mutations

frequent disease: 1:3000 male childbirths same molecular defect

dystrophin is a major protein of the normal

muscle membrane (sarcolemma) dystrophin is absent in Duchenne,

underdeveloped in Becker

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Sarcoglycanopathies(Limb girdle muscular dystrophies)

LGMD1A 5q myotilin

LGMD1B 1q lamin

LGMD2A 15q calpainLGMD2B 2p dysferlin

LGMD2C 13q -sarcoglycan

LGMD2D 17q -sarcoglycan

LGMD2E 4q -sarcoglycan

LGMD2F 5q -sarcoglycan

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Dystrophin-sarcoglycan complex

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Normal Duchenne -SGpathy

Dystrophin

-dystroglycan

-sarcoglycan

-sarcoglycan

-sarcoglycan

-sarcoglycan

utrophin

Immunfluorescence staining

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Myotonic dystrophies

DM1 autosomal dominant expansion of trinucleotide repeat on

chromosome 19q normal individuals have 5-35 repeats,

patients have 50-2000 repeats

correlation between number of repeatsseverity of disease

associated with systemic abnormalities

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Myotonic dystrophies

PROMM (DM2)

autosomal dominant

chromosome 3q

gene not yet identified

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Muscle channelopathies

Chloride Myotonia congenita

Sodium Periodic paralysis

Paramyotonia congenita

Calcium Periodic paralysis

Malignant hyperthermiaPotassium Periodic paralysis

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Inflammatory myopathies

Polymyositis / dermatomyositis

characterized by subacute progressivemuscular weakness

dermatomyositis: humorally mediated

polymyositis: cell-mediated immune

process antigen not known

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Normal SMN gene

Large inverted duplication

Telomeric and centromeric copies

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

SMN defects SMA I 2-3 copies of SMN2

Werdnig-Hoffman

SMA II 3 copies of SMN2

SMA III 4-8 copies of SMN2

Kugelberg-Welander

Deletion of SMN1

Conversion to SMN2

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Amyotrophic lateral sclerosis

adult degenerative motor neuron diseaseaffecting upper and lower motor neurons

with rapid progression

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Kuliah April2008.FKK-UMJ

*Neurologist, Dipl.Forensic Medicine

Buku Bacaan: Text book Neurology, Gilroy

Thank UWassalam, Wr, Wbr