Atrophy ; Brain ; pathology ; Child ; Female ; Humans ; Muscle Fibers, Slow-Twitch ; pathology ; Neuromuscular Diseases ; congenital ; pathology

Congenital neuromuscular disease with uniform type 1 fiber (CNMDU1) is a rare but distinct form of nonprogressive, congenital myopathy. CMNDU1 is characterized by a type 1 muscle fiber content of more than 99%. This condition has only been previously described in a few reports. The authors report an 11-year-old girl who exhibited delayed developmental milestones, proximal muscle weakness, and bilateral ptosis. Her serum creatine kinase level was normal but an electromyographic study showed myopathic changes. A biopsy specimen from the left deltoid muscle revealed a uniformity of type 1 fibers (greater than 99%) with a moderate variation in fiber size. This is the first case of CNMDU1 reported in Korea.
Biopsy ; Child ; Developmental Disabilities/*pathology ; Female ; Human ; Muscle Fibers, Slow-Twitch/*pathology ; Muscle, Skeletal/*pathology ; Neuromuscular Diseases/congenital/*pathology

OBJECTIVETo observe the change of the muscular fiber phynotype at different condition of nerve injury.

METHODSRabbits were used as an animal model in this study. The trigeminus and facial nerves of the animal were simultaneously severed (group 1) or only the latter was severed (group 2). The morphologic change of the muscular fibers was observed with histochemical methods; the tension of contraction and the threshold value of electrical stimulation were observed with electrical physiological methods.

RESULTSTrigeminus nerve play an important role in delaying muscular atrophy after facial nerve was severed. The atrophy degree of type II a and II b muscular fibers was less in group 2 than that in group 1. The change of type 1 muscular fibers was not affected by trigeminus nerve. New muscular fibers emerged in group 2. The tension of contraction and the threshold value of electrical stimulation were better in group 2 than that of in group 1.

CONCLUSIONSSensory nerve could delay muscle atrophy after denervation. Sensory nerve should be repaired simultaneously when the motor nerve was sutured. The results of this study would facilitate clinical treatment for facial palsy.

Animals ; Denervation ; Disease Models, Animal ; Facial Nerve ; Facial Nerve Diseases ; pathology ; Female ; Muscle Fibers, Skeletal ; pathology ; Muscle Fibers, Slow-Twitch ; pathology ; Rabbits

OBJECTIVETo explore the relationship between contractile characteristics and fiber type conversion in hind-limb unloading mice soleus.

METHODSAfter 28-day hind-limb unloading and muscle atrophy, we used the method of isolated muscle perfusion with different stimulated protocols to determine the changes in contractile characteristics including the isometric twitch force and tetanus force and fatigue index of slow twitch muscle in mice. The muscle myofibrillar composition and fiber type conversion were detected by immunofluorescence staining and real-time PCR.

RESULTSThe isometric twitch force and the tetanus force and fatigue index were decreased progressively in 28-day unloaded mice soleus, with the increase in fast twitch fiber subtype and the decrease in slow twitch fiber subtype.

CONCLUSIONThe alteration of contractile characteristics is relevant to the slow-to-fast fiber conversion in mice soleus after 28-day hind-limb unloading.

Animals ; Hindlimb Suspension ; physiology ; Mice ; Mice, Inbred C57BL ; Muscle Contraction ; physiology ; Muscle Fatigue ; physiology ; Muscle Fibers, Fast-Twitch ; physiology ; Muscle Fibers, Slow-Twitch ; physiology ; Muscle, Skeletal ; pathology ; physiology ; Muscular Atrophy

PURPOSE: The purpose of this study was to determine the effect of dehydroepiandrosterone (DHEA) on recovery of muscle atrophy induced by Parkinson's disease. METHODS: The rat model was established by direct injection of 6-hydroxydopamine (6-OHDA, 20 microg) into the left striatum using stereotaxic surgery. Rats were divided into two groups; the Parkinson's disease group with vehicle treatment (Vehicle; n=12) or DHEA treatment group (DHEA; n=22). DHEA or vehicle was administrated intraperitoneally daily at a dose of 0.34 mmol/kg for 21 days. At 22-days after DHEA treatment, soleus, plantaris, and striatum were dissected. RESULTS: The DHEA group showed significant increase (p<.01) in the number of tyrosine hydroxylase (TH) positive neurons in the lesioned side substantia nigra compared to the vehicle group. Weights and Type I fiber cross-sectional areas of the contralateral soleus of the DHEA group were significantly greater than those of the vehicle group (p=.02, p=.00). Moreover, extracellular signal-regulated kinase (ERK) phosphorylation significantly decreased in the lesioned striatum, but was recovered with DHEA and also in the contralateral soleus muscle, Akt and ERK phosphorylation recovered significantly and the expression level of myosin heavy chain also recovered by DHEA treatment. CONCLUSION: Our results suggest that DHEA treatment recovers Parkinson's disease induced contralateral soleus muscle atrophy through Akt and ERK phosphorylation.
Animals ; Corpus Striatum/drug effects/metabolism ; Dehydroepiandrosterone/*pharmacology/therapeutic use ; Extracellular Signal-Regulated MAP Kinases/metabolism ; Male ; Muscle Fibers, Slow-Twitch/drug effects ; Muscle, Skeletal/drug effects/metabolism ; Muscular Atrophy/drug therapy/*etiology/*pathology ; Myosins/metabolism ; Neurons/drug effects/enzymology ; Oxidopamine/toxicity ; Parkinson Disease, Secondary/*chemically induced/*complications ; Phosphorylation ; Proto-Oncogene Proteins c-akt/metabolism ; Rats ; Rats, Sprague-Dawley ; Tyrosine 3-Monooxygenase/metabolism