Distal Myopathy with Anterior Tibial Onset

mutation in dysferlin

Also Known As:

Myopathy, Distal, with Anterior Tibial Onset

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Distal Myopathies: 216
        Distal Myopathy with Anterior Tibial Onset: 8
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Distal Myopathies: 216
        Distal Myopathy with Anterior Tibial Onset: 8
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Distal Myopathies: 216
      - Distal Myopathy with Anterior Tibial Onset: 8

Related Diseases

1.	type 2B Limb-girdle muscular dystrophy
2.	Miyoshi myopathy
3.	Muscular Diseases (Myopathy)
4.	Walker-Warburg Syndrome
5.	Muscular Dystrophies (Muscular Dystrophy)

Experts

1.	Yokota, Toshifumi: 2 articles (01/2018 - 08/2013)
2.	Amer, Yasmine Baba: 1 article (08/2020)
3.	Authier, François Jérôme: 1 article (08/2020)
4.	Dammak, Mariem: 1 article (08/2020)
5.	Farhat, Nouha: 1 article (08/2020)
6.	Lehkim, Leila: 1 article (08/2020)
7.	Mahfoudh, Khaireddine Ben: 1 article (08/2020)
8.	Mhiri, Chokri: 1 article (08/2020)
9.	Rekik, Sabrine: 1 article (08/2020)
10.	Romdhane, Sawsan Ben: 1 article (08/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Distal Myopathy with Anterior Tibial Onset:

1.	DysferlinIBA 08/01/2020 - "This study aims to describe three cases, belonging to a consanguineous Tunisian family, sharing a new splicing mutation in the dysferlin gene and presenting intra-familial variability of dysferlinopathies: Proximal-distal weakness and distal myopathy with anterior tibial onset. " 12/01/1999 - "Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb-girdle dystrophy, distal myopathy with anterior tibial onset)." 09/01/1998 - "Identical mutations in the dysferlin gene can produce more than one myopathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset)." 01/01/2015 - "Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). " 08/01/2010 - "This approach may also be applicable to limb-girdle muscular dystrophy type 2B (LGMD2B), Myoshi myopathy (MM) and distal myopathy with anterior tibial onset (DMAT), which are caused by mutations in the dysferlin-encoding DYSF gene. "
2.	Laminin (Merosin)IBA 01/01/2018 - "Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). "

Therapies and Procedures

Therapeutics

08/02/2013 - "Spinal muscular atrophy (SMA), Huntington's disease (HD), amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), Fukuyama congenital muscular dystrophy (FCMD), dysferlinopathy (including limb-girdle muscular dystrophy 2B; LGMD2B, Miyoshi myopathy; MM, and distal myopathy with anterior tibial onset; DMAT), and myotonic dystrophy (DM) are all reported to be promising targets for antisense therapy. "