Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

Peripheral neuropathy is present in about 20% of affected individuals. Overt cardiomyopathy is present in 15%-30%. [ncbi.nlm.nih.gov]

Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. [orpha.net]

The onset usually occurs in adult life (between the second and fourth decade) but may be congenital or present in early childhood. [medlink.com]

Join now to see the full profile Grant Support Investigation Of Myofibillar Myopathies National Institute Of Neurological Disorders And Stroke 2005–2009 Committees Member for Neuromuscular pathology, United Council for Neurologic Subspecialties 2005 - Present [doximity.com]

• Crying

  Weak cry MedGen UID: 65892 • Concept ID: C0234860 • Finding Neck muscle weakness MedGen UID: 66808 • Concept ID: C0240479 • Finding Decreased strength of the neck musculature. [ncbi.nlm.nih.gov]

• Ulcer

  Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Thiamine-responsive encephalopathy Thomsen and Becker disease Thyrotoxic periodic paralysis Tibial muscular dystrophy Toriello-Carey syndrome Transient neonatal myasthenia gravis Tremor-nystagmus-duodenal ulcer [se-atlas.de]

Treatment - Alpha-B crystallinopathy Treatment may include a pacemaker and implantable cardioverter defibrillator (ICD) for arrhythmia or cardiac conduction defects; cardiac transplantation for progressive or life-threatening cardiomyopathy; respiratory [checkorphan.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment of acute lymphoblastic leukaemia L-Asparaginase 90 days ... [zanran.com]

There is no specific treatment to stop or reverse any form of MD. [monarchinitiative.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Diagnosis - Alpha-B crystallinopathy Prognosis - Alpha-B crystallinopathy Not supplied. [checkorphan.org]

The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. [monarchinitiative.org]

In childhood, RCM accounts for 2–5% of cardiomyopathies and has a grave prognosis ( Kaski, 2008 .) [intechopen.com]

Duygu Selcen [2] has identified a number of different etiologies including alpha-B-crystallin, filamin-C, FHL1, desmin, myotilin, plectin, ZASP, and BAG3. [link.springer.com]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]

[…] type 26 Synonym(s): (no synonyms) Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for CRYAB Genetic Association Database (GAD) CRYAB Human Genome Epidemiology (HuGE) Navigator CRYAB Atlas of Genetics and Cytogenetics in Oncology and Haematology: CRYAB No data available for Genatlas for CRYAB Gene CRYAB promoter [genecards.org]

The European Society of Cardiology (ESC) has classified them according to morphological and functional phenotypes involving their pathophysiology ( Maron, 2006 ; Maron, 2008 ; Elliott, 2008 ) Primary cardiomyopathies are those which and can be genetic [intechopen.com]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

Prevention - Alpha-B crystallinopathy Not supplied. Diagnosis - Alpha-B crystallinopathy Prognosis - Alpha-B crystallinopathy Not supplied. [checkorphan.org]

We have proposed that protein aggregation is prevented by manipulation of the ER microenvironment with αBC, and have shed light on a novel aspect of the ER as a therapeutic target. [thebiogrid.org]

Abstract α-B-Crystallin (CryAB, gene map locus: 11q22.3-q23.1) is a member of the small heat shock protein (HSP) family, a group of proteins that prevent protein aggregation upon exposure of a cell to heat and/or restore the biological activity of cell [ncbi.nlm.nih.gov]

Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. [genecards.org]