Decreased resting energy expenditure in patients with Duchenne muscular dystrophy.

BACKGROUND: Skeletal muscle metabolism is a major determinant of resting energy expenditure (REE). Although the severe muscle loss that characterizes Duchenne muscular dystrophy (DMD) may alter REE, this has not been extensively investigated. METHODS: We studied REE in 77 patients with DMD ranging in age from 10 to 37 years using a portable indirect calorimeter, together with several clinical parameters (age, height, body weight (BW), body mass index (BMI), vital capacity (VC), creatine kinase, creatinine, albumin, cholinesterase, prealbumin), and assessed their influence on REE. In addition, in 12 patients maintaining a stable body weight, the ratio of energy intake to REE was calculated and defined as an alternative index for the physical activity level (aPAL). RESULTS: REE (kcal/day, mean±SD) in DMD patients was 1123 (10-11 years), 1186±188 (12-14 years), 1146±214 (15-17 years), 1006±136 (18-29 years) and 1023±97 (≥30 years), each of these values being significantly lower than the corresponding control (p<0.0001). VC (p<0.001) was the parameter most strongly associated with REE, followed by BMI (p<0.01) and BW (p<0.05). The calculated aPAL values were 1.61 (10-11 years), 1.19 (12-14 years), 1.16 (15-17 years), and 1.57 (18-29 years). CONCLUSION: The REE in DMD patients was significantly lower than the normal value in every age group, and strongly associated with VC. Both the low REE and PAL values during the early teens, resulting in a low energy requirement, might be related to the obesity that frequently occurs in this age group. In contrast, the high PAL value in the late stage of the disease, possibly due to the presence of respiratory failure, may lead to a high energy requirement, and thus become one of the risk factors for development of malnutrition.

Efficacy and tolerance of gastrostomy feeding in Japanese muscular dystrophy patients.

Although muscular dystrophy patients often have feeding difficulty and need long-term enteral nutrition, only a few reports have described gastrostomy feeding in these patients. This study was designed to evaluate the efficacy and tolerance of gastrostomy feeding in patients with muscular dystrophy. We performed a retrospective, multicenter study on 144 patients with muscular dystrophy who received gastrostomy feeding between 2007 and 2009 in 25 neuromuscular centers in Japan. There were 77 Duchenne muscular dystrophy (median age at gastrostomy placement 26 years, range 13-47 years), 40 myotonic dystrophy (median age 54.5 years, range 13-70 years), 11 Fukuyama congenital muscular dystrophy (median age 22 years, range 13-29 years), 5 limb girdle muscular dystrophy (median age 62 years, range 43-78 years), and 5 facioscapulohumeral muscular dystrophy (median age 52 years, range 28-67 years) patients. Many benefits including amelioration of malnutrition, swallowing difficulty and respiratory status were observed after the introduction of gastrostomy feeding. Especially in patients with Duchenne muscular dystrophy, mean body weight significantly increased after gastrostomy placement. Although most complications, which are commonly observed in other populations, were tolerable, respiratory failure and peritonitis were important concerns. These findings suggest that gastrostomy placement at an appropriate time is advisable in patients with muscular dystrophy.

[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].

A 50-year-old woman, who had consanguineous parents, developed gait disturbance at age 3, and revealed nystagmus, cerebellar ataxia, peripheral neuropathy, and spastic tetraparesis. She admitted to our hospital at age 14, and the symptoms progressed very slowly. MRI of this case at age 45 showed a remarkable, diffuse hypomyelination of the cerebrum. Her older sister who already deceased at age 16 showed neurological symptoms similar to this case. The patient was found to have no proteolipid protein-1 gene duplications and deletions and base substitution. Her symptoms were considered to be different from those of typical HLD2, 3, 4 and 5. She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy.

Salivary chromogranin A: useful and quantitative biochemical marker of affective state in patients with amyotrophic lateral sclerosis.

OBJECTIVE: To evaluate the affective state biochemically and quantitatively in amyotrophic lateral sclerosis (ALS) patients using salivary chromogranin A (CgA) measurement. SUBJECTS AND METHODS: Twelve moderate and 12 terminal ALS patients defined using the ALS Health State Scale were studied. The correlation between salivary CgA levels and the 40-item ALS assessment questionnaire (ALSAQ-40) scores was investigated in 12 moderate ALS patients. Moreover, salivary CgA levels in 12 terminal ALS patients, in whom the emotional functioning score could not be assessed, were compared with those in 12 moderate ALS patients, 7 patients with tube-fed vascular dementia, and in 26 healthy volunteers. RESULTS: There were individual differences in salivary CgA levels in spite of similar severity of disease; however, mean salivary CgA levels in terminal ALS patients, in whom the emotional functioning score based on interview could not be assessed, was significantly higher (12.58+/-2.79 pmol/mL) than in patients with moderate ALS (6.36+/-1.62 pmol/mL, p<0.05), tube-fed vascular dementia (4.04+/-2.04 pmol/mL, p<0.01), and healthy volunteers (3.77+/-1.90 pmol/mL, p<0.01). Moreover, a statistically significant positive correlation was observed between salivary CgA levels and emotional functioning scores on ALSAQ-40 in moderate patients (r=0.892, p<0.01). CONCLUSION: Salivary CgA may be a useful and quantitative biochemical marker of the affective state, not only in moderate, but also in terminal ALS. Periodic salivary CgA measurements over the long term and/or in various situations could have therapeutic implications for the quality of life of these patients.

Chronic sensory neuronopathy associated with human T-cell lymphotropic virus type I infection.

We described two patients with chronic sensory neuronopathy who had anti-HTLV-I antibody in serum and cerebrospinal fluid but no signs of myelopathy. A sural nerve specimen revealed severe degeneration of myelinated and unmyelinated axons. The second patient had subclinical Sjögren's syndrome suggestive of a possible link among human T-cell lymphotropic virus type I (HTLV-I), Sjögren's syndrome and sensory neuronopathy, respectively. The broad spectrum of neurologic disorders associated with HTLV-I infection now would include chronic sensory neuronopathy.