Subsarcolemmal accumulations of lipofuscin were also present (Fig. 3e). [bmcneurol.biomedcentral.com]

Nevertheless, muscle MRI has been studied in SMA because the clinical presentations may mimic myopathies. In survival of motor neuron 1 (SMN1)-related SMA, the distribution of imaging abnormalities varies with the age of onset and disease severity. [practicalneurology.com]

Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. Am J Surg Pathol. 2010 Oct;34(10):1528-43. doi: 10.1097/PAS.0b013e3181f0ae47. [medlineplus.gov]

• Weakness

  One year later, he experienced weakness in his lower extremities with no sensory disturbance. [bmcneurol.biomedcentral.com]

  How filaminopathies develop Mutations in the filamin C gene (FLNC) cause filaminopathies, which are manifested through progressive muscle weakness to the point of loss of the ability to walk. [sciencedaily.com]

  Clinically, myotonic dystrophy type 1 (DM1) is characterized by predominantly distal weakness associated with clinical myotonia. [practicalneurology.com]

• Hypertension

  […] overinflation of the lungs due to air being trapped and not exhaled (hyperinflation), narrowing of the blood vessels in the lungs (pulmonary vascular attenuation), and high blood pressure in the vessels that carry blood from the heart to the lungs (pulmonary hypertension [medlineplus.gov]

• Myopathy

  Distal myopathy Missense mutation Lower motor neuron [bmcneurol.biomedcentral.com]

  Dominant-negative effects of a novel mutation in the filamin myopathy. Neurology. 2010;75:2137–2138. [ncbi.nlm.nih.gov]

  "This enables us to distinguish filaminopathies from other muscle diseases within the group of myofibrillar myopathies," explains Dr. Kley. Story Source: Materials provided by Ruhr-Universitaet-Bochum. [sciencedaily.com]

• Muscle Weakness

  How filaminopathies develop Mutations in the filamin C gene (FLNC) cause filaminopathies, which are manifested through progressive muscle weakness to the point of loss of the ability to walk. [sciencedaily.com]

  In patients with proximal muscle weakness, the involvement of the vastus intermedius and medialis, adductor magnus, and semimembranosus and biceps femoris muscles is more pronounced. [bmcneurol.biomedcentral.com]

"We hope to positively influence the course of the disease by means of early treatment with substances that stimulate the production of heat shock proteins or affect the protein degradation in other ways. [sciencedaily.com]

Muscle MRI can also be helpful in selecting a muscle for biopsy and there is growing interest in using muscle MRI to assess response to treatment in clinical trials and practice. [practicalneurology.com]

Neuropathies and Motor Neuron Disorders In neuropathies, MR neurography is the most commonly used modality and allows the evaluation of nerve abnormalities (eg, enlargement, enhancement, or T2 hyperintensity) and identification of possible etiologies [practicalneurology.com]

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain. 2012;135:2642–2660. [PMC free article] [PubMed] [Google Scholar] 24. [ncbi.nlm.nih.gov]

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain. 2012;135:2642–60. Article Google Scholar 4. Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, et al. [bmcneurol.biomedcentral.com]

Disruption of this lining prevents the movement of neurons to the surface of the brain. [medlineplus.gov]