The aim of the study was to assess different outcome measures in a cohort of ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to establish the spectrum of possible changes ...in relation to age and steroid treatment.
The study is a longitudinal multicentric cohort study. A total of 106 ambulant patients with DMD were assessed using the 6-minute walk test (6MWT) and North Star Ambulatory Assessment (NSAA) at baseline and 12 months. Clinical data including age and steroid treatment were collected.
During the 12 months of the study, we observed a mean decline of 25.8 meters in the 6MWT with a SD of 74.3 meters. On NSAA, the mean decline was 2.2 points with a SD of 3.7. Not all the boys with DMD in our cohort showed a decline over the 12 months, with young boys showing some improvement in their 6MWT and NSAA scores up to the age of 7. NSAA and the 6MWT had the highest correlation (r = 0.52, p < 0.001).
This study provides longitudinal data of NSAA and 6MWT over a 12-month period. These data can be useful when designing a clinical trial.
G.P.223 Scutifero, M; Taglia, A; D’Ambrosio, P ...
Neuromuscular disorders : NMD,
10/2014, Letnik:
24, Številka:
9
Journal Article
Recenzirano
Limb-girdle muscular dystrophies (LGMDs) are a group of genetically determined autosomal disorders primary or predominantly involving girdle muscles. Twenty-five loci have been so far identified, 8 ...dominant (AD) and 17 recessive (AR). The dominant forms (LGMD1A-1H) are generally milder and relatively rare, accounting for <10% of all LGMDs. The others (LGMD 2A–2Q) are much more common, with a cumulative prevalence of 1:15,000. Heart is variably involved in these forms. We report cardiological data of 190 molecularly diagnosed LGMDs (31AD;159AR) patients followed at the Cardiomyology and Medical Genetics of SUN in the last 20 years. Patients were assessed every 6 months by cardiological examination, standard and Holter ECG and echocardiogram. When necessary, they also performed electro physiological study (EPS), cardiac scintiscan and RMN. The analysis of the data, at the last control, showed that heart involvement was noticed in >80% of cases in LGMD1B and 1D, often preceding skeletal muscle manifestation or remaining the only marker of the disease. Heart block was the first and most clinically significant cardiac disease in these forms, likely related to fibrosis of the conduction system and fatty infiltration. Implantation of a device was required in about 2/3 of cases to prevent cardiac sudden death. In the ARLGMDs, heart involvement was most frequently observed in sarcoglycanopathies LGMD2C, 2F, 2B and in LGMD2I with clinical pictures evolving toward a dilated cardiomyopathy. To be mentioned that cardiomyopathy was often associated with specific mutations: A525T in LGMD2C and L276I in LGMD2I. In the other forms of LGMD, heart involvement was rare, occurred later in life, likely related to the aging. We recommend that all patients with the above mentioned LGMDs, are carefully monitored for the development of cardiomyopathy, even in the absence of overt cardiac or muscle symptoms/signs and in the early stages of the disease, by not invasive procedures.
Sudden cardiac death, or cardiac arrest, is a major health problem, causing about 166,200 deaths each year among adults in the United States. It may be caused by almost all known heart diseases. Most ...cardiac arrests occur when the diseased heart begins to exhibit rapid and/or chaotic activity, such as ventricular tachycardia or fibrillation. Some are due to extreme slowing of the heart. All these events are called life-threatening arrhythmias. Arrhythmogenic cardiomyopathy is a frequent feature in several muscular dystrophies with a potential risk of cardiac sudden death. Among the measures able to predict the propensity to develop life-threatening arrhythmias, heart rate variability is an accepted non invasive measurement of cardiac autonomic modulation. The use of heart rate variability to measure the extent of changes in autonomic nervous system is an established risk stratification procedure in different diseases. In fact numerous studies have demonstrated the positive prognostic power of altered heart rate variability values to predict all-cause mortality, cardiac events, sudden cardiac death and heart transplantation. Usefulness of heart rate variability as a predictor of sudden cardiac death in muscular dystrophies has been reviewed.
Limb-girdle muscular dystrophies (LGMDs) are a group of genetically determined autosomal disorders primary or predominantly involving girdle muscles. Twenty-five loci have been so far identified, 8 ...dominant (AD) and 17 recessive (AR). The dominant forms (LGMD1A-1H) are generally milder and relatively rare, accounting for <10% of all LGMDs. The others (LGMD 2A–2Q) are much more common, with a cumulative prevalence of 1:15,000. Heart is variably involved in these forms. We report cardiological data of 190 molecularly diagnosed LGMDs (31AD;159AR) patients followed at the Cardiomyology and Medical Genetics of SUN in the last 20years. Patients were assessed every 6months by cardiological examination, standard and Holter ECG and echocardiogram. When necessary, they also performed electro physiological study (EPS), cardiac scintiscan and RMN. The analysis of the data, at the last control, showed that heart involvement was noticed in >80% of cases in LGMD1B and 1D, often preceding skeletal muscle manifestation or remaining the only marker of the disease. Heart block was the first and most clinically significant cardiac disease in these forms, likely related to fibrosis of the conduction system and fatty infiltration. Implantation of a device was required in about 2/3 of cases to prevent cardiac sudden death. In the ARLGMDs, heart involvement was most frequently observed in sarcoglycanopathies LGMD2C, 2F, 2B and in LGMD2I with clinical pictures evolving toward a dilated cardiomyopathy. To be mentioned that cardiomyopathy was often associated with specific mutations: A525T in LGMD2C and L276I in LGMD2I. In the other forms of LGMD, heart involvement was rare, occurred later in life, likely related to the aging. We recommend that all patients with the above mentioned LGMDs, are carefully monitored for the development of cardiomyopathy, even in the absence of overt cardiac or muscle symptoms/signs and in the early stages of the disease, by not invasive procedures.
