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8 Possible Causes for Most Patients Remain Ambulatory in Adulthood

  • Congenital Merosin-Positive Muscular Dystrophy

    Hum Genet. 2005 Jul;117(2-3):207-12. Epub 2005 May 11. Author information 1 Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK. Abstract The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6[…][ncbi.nlm.nih.gov]

  • Becker Muscular Dystrophy

    In BMD, patients usually remain ambulatory beyond sixteen years and into early adulthood, and they may live beyond age thirty.[clinicaladvisor.com] The most common cause of death is progressive respiratory insufficiency and heart failure resulting from cardiomyopathy.[clinicaladvisor.com]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G

    LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.[mendelian.co] Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles.[mendelian.co]

  • Keratitis Bullosa

    LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.[mendelian.co] Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles.[mendelian.co]

  • Adult Spinal Muscular Atrophy

    Most of the patients remain ambulatory 10 to 40 years after clinical onset.[uniprot.org] SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign[uniprot.org]

  • Lumbosacral Plexus Disorder

    Some patients with SMA III may remain ambulatory well into adulthood, but most require a wheelchair by the time they are in their mid 30s.[neupsykey.com] Death from respiratory failure occurs in childhood or early adulthood. SMA III (Kugelberg-Welander disease) may not be evident until after age 5.[neupsykey.com]

  • Nemaline Myopathy Type 2

    Patients usually have difficulty walking and cannot run, but many remain ambulatory into adulthood. Life expectancy may not be reduced.[sema4genomics.com] In the most severe form, which is less common, decreased fetal movements are noticed before birth, and patients will not achieve the ability to sit or walk.[sema4genomics.com]

  • Antinolo-Nieto-Borrego Syndrome

    Most of the patients remain ambulatory 10 to 40 years after clinical onset. [ read more ] 15372378 VCP causing IBMPFD1 167320 The disease is caused by mutations affecting[nectarmutation.org] SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign[nectarmutation.org]

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