What is the epidemiology of muscular dystrophy?
According to a 2020 study on the global epidemiology of DMD, the pooled global DMD prevalence was 7.1 cases per 100,000 males and 2.8 cases per 100,000 in the general population. The pooled global DMD birth prevalence was 19.8 per 100,000 live male births.
What causes Emery Dreifuss Muscular Dystrophy?
Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.
What is Lgmd 2A?
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability.[10249][10250] The …
What are the symptoms of Emery-Dreifuss muscular dystrophy?
What are the symptoms of Emery-Dreifuss muscular dystrophy in a child?
- Weakness and wasting (atrophy) of muscles in the shoulders, upper arms, and calves.
- Stiff joints that make it hard to move around.
- Muscle weakness that slowly gets worse.
- Fainting or fluttering heartbeat (palpitations) because of heart problems.
How is Emery-Dreifuss muscular dystrophy diagnosed?
Usually, the origin of the weakness can be pinpointed by a physical exam. Occasionally, special tests called nerve conduction studies and electromyography (EMG) are done. In these tests, electricity and very fine pins are used to stimulate and assess the muscles or nerves individually to see where the problem lies.
Is limb-girdle muscular dystrophy an autoimmune disease?
Abstract. Limb-girdle myasthenia is an uncommon disease and includes familial and autoimmune forms. Patients present proximal muscle weakness and wasting, and sometimes fatigability, without cranial nerve involvement and fluctuations.
When should dysferlinopathy be suspected in patients with muscular dystrophy?
Dysferlinopathy should be suspected in individuals with suggestive findings of the two major phenotypes, Miyoshi muscular dystrophy and limb-girdle muscular dystrophy 2B, based on the following findings [ Izumi et al 2020 ]. Dysferlinopathy should be considered in individuals with suggestive findings of the following two minor phenotypes:
What is the prognosis of dysferlinopathy?
Compared with sarcoglycanopathies and calpainopathies, dysferlinopathies begin later in life with weakness starting around 18 to 20 years of age but congenital disease or mild adult onset disease have been reported. Weakness is slowly progressive and ambulation is usually preserved typically into the fourth decade.
How is dysferlinopathy diagnosed and treated?
The diagnosis of dysferlinopathy is established in a proband with suggestive findings and biallelic pathogenic variants in DYSF identified by molecular genetic testing. Management. Treatment of manifestations: There is no approved therapy for dysferlinopathy. Treatment is symptomatic only.
What is the prevalence of dysferlinopathy in Italy?
Prevalence of dysferlinopathy varies among populations. The disease appears to be more prevalent in southern than northern Europe and Japan (160–163). In Italy, frequency of LGMD2B is indeed high (18.7%) being second only to LGMD2A (128).