Your QuestionAre there any other diseases with the same symptoms as Duchenne muscular dystrophy? Can Silver-Russell syndrome mimic muscular dystrophy?
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Duchenne muscular dystrophy (DMD) is a type of dystrophinopathy, which is a group of muscle diseases caused by mutations in the DMD gene, which encodes the protein dystrophin; the other dystrophinopathies are Becker muscular dystrophy (BMD) and DMD-associated dilated cardiomyopathy (DCM). Although these disorders are caused by mutations in the same gene, they do differ with regard to age of onset, course and pace of progression, symptoms, and life expectancy. DMD and BMD primarily affect the skeletal muscles, while DCM primarily affects the heart.
Conditions that may be part of the differential diagnosis of the dystrophinopathies include:
- Limb-girdle muscular dystrophy (LGMD): a group of disorders that are similar to DMD but occur in both sexes as a result of autosomal recessive and autosomal dominant inheritance. LGMD type 2I has symptoms that resemble DMD and/or BMD and is caused by mutations in the FKRP gene.
- Emery-Dreifuss muscular dystrophy (EDMD): characterized by joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting that follows a specific distribution pattern over time, and cardiac (heart) involvement that may include palpitations, presyncope (feeling of faintness) and syncope (fainting), poor exercise tolerance, and congestive heart failure. Age of onset, severity, and progression of the muscle and cardiac involvement are variable. The two genes known to be associated with EDMD are EMD (X-linked EDMD) and LMNA (autosomal dominant EDMD and autosomal recessive EDMD).
- Spinal muscular atrophy (SMA): suspected in individuals with poor muscle tone, symmetric muscle weakness that does not affect the face and ocular (eye) muscles, and evidence of anterior horn cell involvement (a motor neuron in the spinal cord), including muscle twitches of the tongue and absence of deep tendon reflexes. SMA is caused by mutations in the SMN1 gene. Inheritance is autosomal recessive.
- Dilated cardiomyopathy (DCM): can be familial or non-familial. Familial DCM can have autosomal dominant, autosomal recessive, or X-linked inheritance.
- NINDS Muscular Dystrophy Information Page. National Institute of Neurological Disorders and Stroke. December 29, 2010; http://www.ninds.nih.gov/disorders/md/md.htm. Accessed 2/16/2011.
- Basil T Darras, Bruce R Korf, David K Urion. Dystrophinopathies. GeneReviews. March 21, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1119/#dbmd.Differential_Diagnos. Accessed 2/16/2011.
- Russell-Silver Syndrome. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition/russell-silver-syndrome. Accessed 2/16/2011.
- Howard M Saal. Russell-Silver Syndrome. GeneReviews. March 9, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1324/#rss.Differential_Diagnos. Accessed 2/16/2011.