Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Mus
cular dystrophies protocol
The protocol to be used for muscular dystrophies at Semmelweis University, Institute of Genomic
Medicine and Rare Disorders follows reference works of:
[1]
Narayanaswami P, Carter G, David W, Weiss M, Amato AA.
Evidence-based guideline summary:
Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development
Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the
American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Apr
21;84(16):1720-1.
[2]
Bradley’s Neurology in Clinical Practice 7e
[3
] http://www.uptodate.com/contents/limb-girdle-muscular
dystrophy?source=search_result&search=lgmd&selectedTitle=1~24 (Accesed: 2016/06/16)
Definition:
Muscular dystrophies are inherited group of progressive myopathic disorders resulting from defects in
genes required for normal muscle function. Muscle weakness is the primary symptom.
Use of the protocol:
1.) When a patient presents with muscle weakness first the anatomic site of the weakness has to be
clarified (i.e. confirm that the origin of weakness is due to skeletal muscle disorder). Pattern of weakness,
neurologic examination, laboratory studies (particularly creatine kinase), and electrophysiologic studies
point to a primary skeletal muscle disease.
2.) Primary skeletal muscle diseases may be genetic in origin, or be acquired. Follow
“Evaluation of
patient with muscle weakness” and consider possibly acquired causes of skeletal muscle disease:
“
Table: major causes of myopathy”
3.) If muscular dystrophy is the suspected cause of the muscle weakness follow the protocol “
Conceptual
approach to a patient with suspected limb-girdle muscular dystrophy”
4.) If clinical features, ethnicity, inheritance are characteristic consider genetic testing without muscle
biopsy. Use flowcharts:
“Suspected muscular dystrophy with autosomal dominant / autosomal
recessive / X-linked recessive inheritance pattern”
1
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
5.) If clinical features are not cha
racteristic consider muscle biopsy followed by genetic testing.
6.) If metabolic myopathy is suspected clinically follow “
Diagnostic approach to patients with suspected
metabolic myopathy”
2
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Evaluation of patient with muscle weakness (adapted from Bradley’s
Neurology 7e):
3
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
http://www.uptodate.com/contents/search?search=myopathy&sp=0&searchType=PLAIN_TEXT
&source=USER_INPUT&searchControl=TOP_PULLDOWN&searchOffset= Accesed: 2016/06/16
4
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Conceptual approach to a patient with a suspected limb-girdle muscular dystrophy.
Pu
shpa Narayanaswami et al. Neurology 2014;83:1453-1463
5
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Diagnostic approach to patients with a limb-girdle pattern of weakness
and suspected muscular dystrophy with an autosomal dominant inheritance pattern
Pushpa Narayanaswami et al. Neurology 2014;83:1453-1463
6
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Diagnostic approach to patients with a limb-girdle pattern of weakness
and suspected muscular dystrophy with an autosomal recessive inheritance pattern
P ushpa Narayanaswami et al. N eurology 2014;83:1453-1463
7
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Diagnostic approach to patients with a limb-girdle pattern of weakness
and suspected muscular dystrophy with an X-linked recessive inheritance pattern
Pushpa Narayanaswami et al. Neurology 2014;83:1453-1463
8
Institute of Genomic Medicine and Rare
Disorders
Semmelweis University
Head of department: Prof. Dr. Mária Judit Molnár
25-29. Tömő str., Budapest, Hungary, H-1083
Tel:+36-1-459-1483
Diagnostic approach to patients with suspected metabolic myopathy
http://www.uptodate.com/contents/image?imageKey=PEDS%2F71018&topicKey=PEDS%2F6190&rank=1%7E24&source=se
e_link&search=lgmd&utdPopup=true Accesed: 2016/06/16
9
