Becker's muscular dystrophy
Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin.
Congenital muscular dystrophy
Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; shortened life span.
Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be paired with effects on the brain and other organ systems. A number of the forms of the congenital muscular dystrophies are caused by defects in proteins that are thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus. In the early 1990s, researchers identified the gene for the protein dystrophin which, when absent, causes DMD. Since the gene is on the X-chromosome, this disorder affects primarily males and females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently, accounting for a third of cases. The remaining two-thirds of cases are inherited in a recessive pattern.
Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton within the muscle cells, through the outer membrane of each cell, to the tissue framework that surrounds each cell. Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle.
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) initially affects muscles of the face, shoulders, and upper arms with progressive weakness. Symptoms usually develop in the teenage years. Some affected individuals become severely disabled. The pattern of inheritance is autosomal dominant, but the underlying genetic defect is poorly understood. Most cases are associated with a deletion near the end of chromosome 4.
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy is also called LGMD. LGMDs all show a similar distribution of muscle weakness, affecting both upper arms and legs. Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenage onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophin-glycoprotein complex.
Death from LGMD is usually due to cardiopulmonary complications.
Myotonic muscular dystrophy
Myotonic MD's age at onset: 20 to 40 years Myotonic muscular dystrophy is the most common adult form of muscular dystrophy. It is marked by myotonia as well as muscle wasting and weakness. Myotonic dystrophy varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, eyes, and gastrointestinal tract. Myotonic dystrophy follows an autosomal dominant pattern of inheritance. Myotonic dystrophy results from the expansion of a short repeat in the DNA sequence (CTG in one gene or CCTG in another gene). In other words, the gene defect is an abnormally long repetition of a three- or four-letter "word" in the genome. While the exact mechanism of action is not known, this molecular change may interfere with the production of important muscle proteins.
Oculopharyngeal muscular dystrophy
Oculopharyngeal MD's age at onset: 40 to 70 years; symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness, has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins.
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy (wasting away) and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness. These patients often require comprehensive medical care involving multiple disciplines, including pediatric pulmonology, pediatric neurology, pediatric orthopaedic surgery, pediatric critical care, and physical medicine and rehabilitation; and physical therapy, occupational therapy, respiratory therapy, and clinical nutrition. Genetic counseling is also helpful for the parents and family members.
The term "juvenile spinal muscular atrophy" refers to Kugelberg-Welander syndrome.
Brown-Vialetto-Van Laere syndrome (BVVL)
The Brown-Vialetto-Van Laere syndrome (BVVL), sometimes better known as Brown's Syndrome, is an exceptionally rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs. The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure. The syndrome affects children, adolescents, and younger adults; the age at onset of symptoms in the reported cases has ranged from infancy to the third decade of life. The prognosis is poor — most patients diagnosed with the syndrome die within 10 years. There is no cure.
To date, there is no test of confirmation for BVVL, although researchers are currently searching to isolate the responsible gene and are enlisting BVVL and Fazio-Londe patients and their families to contribute DNA to the BVVL BioBank (http://www.bvvl.org). It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.
The syndrome was first described by Charles Brown in 1894; further accounts by Vialetto and Van Laere followed in 1936 and 1966, respectively. There are fewer than 60 cases reported in the medical literature over the 100 odd years since its first description.
Fazio-Londe (FL) syndrome
It produces rapidly progressive weakness of tongue, face and pharyngeal muscles in a clinical pattern similar to myasthenia bulbar palsy. Neuromuscular transmission may be abnormal in these muscles because of rapid denervation and immature reinervation, and strength may improve with administration of cholinesterase inhibitors. Paralysis occurs secondary to degeneration of the motor neurons of the brain stem. It causes progressive bulbar paralysis due to involvement of motor neurons of the cranial nerve nuclei. The most frequent symptoms at onset of progressive bulbar paralysis of childhood has been a unilateral facial paralysis. It is followed in frequency by dysarthria due to facial weakness or by dysphagia. Palatal weakness and palpebral ptosis also have been reported in few patients. Both sexes can be affected.
It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.
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