Clinical Synopsis - #601419 - MYOPATHY, MYOFIBRILLAR, 1; MFM1 - OMIM
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MYOPATHY, MYOFIBRILLAR, 1; MFM1


INHERITANCE
- Autosomal dominant
- Autosomal recessive

CARDIOVASCULAR
Heart
- Hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated cardiomyopathy
- Restrictive heart failure
- Conduction abnormalities
- Arrhythmias

RESPIRATORY
- Respiratory muscle weakness

ABDOMEN
Gastrointestinal
- Constipation due to smooth muscle involvement
- Diarrhea due to smooth muscle involvement

MUSCLE, SOFT TISSUES
- Distal muscle weakness occurs initially
- Proximal muscle weakness occurs later
- Affected muscles show atrophy
- Neck muscle weakness
- Facial weakness
- Bulbar weakness
- Hyporeflexia in lower limbs
- Smooth muscle may also become involved
- EMG shows myopathy
- Biopsy shows degenerative changes consistent with myopathy
- Intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

MISCELLANEOUS
- Variable phenotype
- Onset usually in second or third decades
- Autosomal dominant and autosomal recessive forms

MOLECULAR BASIS
- Caused by mutation in the desmin gene (DES, 125660.0001)


Marla J. F. O'Neill - updated : 12/16/2019
Cassandra L. Kniffin - updated : 5/23/2007
Cassandra L. Kniffin - revised : 2/5/2004
Creation Date:
John F. Jackson : 10/3/1997
joanna : 12/16/2019
joanna : 07/03/2013
ckniffin : 10/11/2011
ckniffin : 5/23/2007
ckniffin : 3/2/2005
alopez : 11/23/2004
ckniffin : 7/22/2004
joanna : 3/15/2004
ckniffin : 2/5/2004
alopez : 2/13/2001

# 601419

MYOPATHY, MYOFIBRILLAR, 1; MFM1


SNOMEDCT: 770627003;   ORPHA: 98909;   DO: 0080092;  


INHERITANCE
- Autosomal dominant
- Autosomal recessive

CARDIOVASCULAR
Heart
- Hypertrophic cardiomyopathy
- Restrictive cardiomyopathy
- Arrhythmogenic right ventricular cardiomyopathy
- Dilated cardiomyopathy
- Restrictive heart failure
- Conduction abnormalities
- Arrhythmias

RESPIRATORY
- Respiratory muscle weakness

ABDOMEN
Gastrointestinal
- Constipation due to smooth muscle involvement
- Diarrhea due to smooth muscle involvement

MUSCLE, SOFT TISSUES
- Distal muscle weakness occurs initially
- Proximal muscle weakness occurs later
- Affected muscles show atrophy
- Neck muscle weakness
- Facial weakness
- Bulbar weakness
- Hyporeflexia in lower limbs
- Smooth muscle may also become involved
- EMG shows myopathy
- Biopsy shows degenerative changes consistent with myopathy
- Intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

MISCELLANEOUS
- Variable phenotype
- Onset usually in second or third decades
- Autosomal dominant and autosomal recessive forms

MOLECULAR BASIS
- Caused by mutation in the desmin gene (DES, 125660.0001)


Contributors:
Marla J. F. O'Neill - updated : 12/16/2019
Cassandra L. Kniffin - updated : 5/23/2007
Cassandra L. Kniffin - revised : 2/5/2004

Creation Date:
John F. Jackson : 10/3/1997

Edit History:
joanna : 12/16/2019
joanna : 07/03/2013
ckniffin : 10/11/2011
ckniffin : 5/23/2007
ckniffin : 3/2/2005
alopez : 11/23/2004
ckniffin : 7/22/2004
joanna : 3/15/2004
ckniffin : 2/5/2004
alopez : 2/13/2001



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