Study finds that lithium could be used to treat people with a rare muscle disease

(Natural News) A rare disease called limb-girdle muscular dystrophy D1 (LMGD1) makes even everyday actions such as climbing stairs, lifting objects and standing up from a chair difficult to do. Over time, it can even cause some people to lose the ability to walk. A recent study, however, shows that lithium can be a possible treatment for LMGD1. Researchers...
Source: - Category: Consumer Health News Source Type: news

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Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In conclusion, the study demonstrated an application of mechanism driven approach at early stage of a rare disease drug development to support lead compound optimization, e nable human dose, pharmacokinetics, and efficacy predictions.
Source: CPT: Pharmacometrics and Systems Pharmacology - Category: Drugs & Pharmacology Authors: Tags: ARTICLE Source Type: research
Basel, 28 April 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today presented 1-year data from FIREFISH Part 2, a pivotal global study evaluating risdiplam in infants aged 1 – 7 months old with symptomatic Type 1 spinal muscular atrophy (SMA). The study met its primary endpoint with 29% of infants (12/41; p
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
We report that BMD heart...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
We present Duchenne muscular dystrophy as a case study to illustrate how PFDD is being operationalized by patient groups and regulators using both verbal and written data sources.Expert opinion: PFDD represents the most widespread approach yet to integrate the patient voice as a source of evidence to inform regulatory decision making. Regulatory approvals are just one frontier in drug development. On the horizon remain uncertainties in how patient experience can inform post-marketing surveillance, pricing, reimbursement, and health technology assessment. Patient-input may be particularly crucial to demonstrate the value of...
Source: Expert Review of Pharmacoeconomics and Outcomes Research - Category: Health Management Tags: Expert Rev Pharmacoecon Outcomes Res Source Type: research
CONCLUSION: Our findings offer a novel look into sleep in young boys with Duchenne muscular dystrophy. Both parent-report and actigraphy data indicate poor sleep health in this population compared with age-matched unaffected peers. Actigraphy was found to align with parent-report of sleep in this population, supporting the use of these two different ways to measure sleep in Duchenne muscular dystrophy. Results from this study should encourage clinicians and researchers alike to further explore sleep and its impact on disease in young boys with Duchenne muscular dystrophy. PMID: 32165079 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
CAMBRIDGE, Mass., Jan. 29, 2020 (GLOBE NEWSWIRE) -- Fulcrum Therapeutics, Inc. (Nasdaq: FULC), a clinical-stage biopharmaceutical company focused on improving the lives of patients with genetically defined rare diseases, today...
Source: - Clinical Trials - Category: Pharmaceuticals Source Type: clinical trials
CONCLUSIONS AND CLINICAL IMPLICATIONS: Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms. PMID: 31956970 [PubMed - as supplied by publisher]
Source: Neurologia i Neurochirurgia Polska - Category: Neurology Authors: Tags: Neurol Neurochir Pol Source Type: research
Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness invo...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Yale geneticist Monkol Lek, Ph.D., who has muscular dystrophy, wants to cure a rare form of the disease.
Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news
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