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Abstract Details

Progressive Muscular Dystrophy in Adults from Mutations in LAMA2 Gene
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
013
Describe clinical phenotype and genotype in  two adults with slowly progressive muscular dystrophy from mutations in LAMA2 gene
Homozygous mutations in LAMA 2 gene causes  recessively inherited congenital muscular  dystrophy - type 1A,  in infants.  Muscle weakness  often with joint contractures in neonates and infancy are presenting features.  Infrequently,  adults with mutations in LAMA 2 present with slowly progressing muscle weakness.
We are presenting 2 adults with progressive myopathy from novel genetic mutations in LAMA2 genes 

Both patients  had a normal birth and had no delay in acquiring developmental milestones. Progressive lower extremity weakness started in teens, followed by upper extremity weakness. Scapular winging was present in one.  Contractures of the hips, hamstrings, ankle and minimally in upper limbs. One patient became wheelchair dependent by the age of 41 years, while the other ambulates with a modified gait. Both patients had depressed, absent reflexes.

Serum CK was elevated  2 to 5 times of upper limit of normal. Nerve conduction studies performed in one of the patients demonstrated a mild, sensorimotor demyelinating neuropathy, while needle EMG in the same patient demonstrated a mild non-irritable myopathy.   Muscle biopsy revealed chronic myopathy with endomysial fibrosis and rare regenerating fibers. MuataMagnetic resonance imaging of the brain in both patients revealed  extensive hyperintenseT2  signal in the periventricular white matter.

One patient, had a pathogenic mutation, c.7658del, and a previously described variant of uncertain significance ( VUS), c.1670A>C, in the LAMA2 gene. The other patient had a pathogenic c.8553_8557del mutation, and a VUS -  c.2176T>C.  
Mutations in LAMA 2 produce chronic and progressive myopathies in adults with features of demyelination in white matter and peripheral nerves. 
Authors/Disclosures
V V. Vedanarayanan, MD, FRCPC (University of Texas at Austin, Dell Medical School)
PRESENTER 		Dr. Vedanarayanan has nothing to disclose.
Varun Sreenivasan, MD (University of Colorado - Neurology) The institution of Dr. Sreenivasan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for ITF therapeutics.