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

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

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]

• Weakness

  Myofibrillar myopathy is characterized by slowly progressive weakness that can involve both proximal and distal muscles. Distal muscle weakness is present in about 80% of individuals and is more pronounced than proximal weakness in about 25%. [ncbi.nlm.nih.gov]

  Alpha-B crystallin-related myofibrillar myopathy Overview Alpha-B crystallinopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with [checkorphan.org]

  Overview Quick Reference An autosomal dominant form of desmin-related myopathy (DRM), that results in weakness of the proximal and distal limb muscles, cardiomyopathy, and cataract. [oxfordreference.com]

  Get Update Overview Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory [diseaseinfosearch.org]

  […] distal leg weakness. [emedicine.medscape.com]

• Hyperthermia

  Lambert-Eaton myasthenic syndrome Late-onset distal myopathy, Markesbery-Griggs type Limb-girdle muscular dystrophy Logopenic progressive aphasia Lower motor neuron syndrome with late-adult onset Macrophagic myofasciitis Madras motor neuron disease Malignant hyperthermia [se-atlas.de]

  Curr Opin Neurol 9: 1–4 PubMed CrossRef Google Scholar Rüdel R, Lehmann-Horn F (1998) Muscle ion channel diseases: Non-dystrophic myotonias, periodic paralyses, and malignant hyperthermia. [link.springer.com]

• Pain

  Muscle weakness worsens over time.Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure [ncbi.nlm.nih.gov]

  […] syndrome Familial episodic pain syndrome with predominantly lower limb involvement Familial episodic pain syndrome with predominantly upper body involvement Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial infantile [se-atlas.de]

  Back pain and fatigue are common. Progression is slow, with continued ambulation until around 50 years of age or later. [emedicine.medscape.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]

• Respiratory Insufficiency

  insufficiency, cardiomyopathy, and cataracts. [checkorphan.org]

  Respiratory failure MedGen UID: 257837 • Concept ID: C1145670 • Disease or Syndrome A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal [ncbi.nlm.nih.gov]

  If the patient has a mutation in exon 343 of TTN, the patient will eventually develop a severe respiratory insufficiency. [path.upmc.edu]

  insufficiency due to muscle weakness ; Slow progression Associated Genes CRYAB (Withdrawn symbols: CRYA2, HSPB5 ) Mouse Orthologs Cryab (Withdrawn symbols: Crya-2, Crya2 ) Source OMIM:608810 (names, synonyms, disease associated genes), Orphanet (disease [mousephenotype.org]

• Dyspnea

  There can be varying degrees of clinical severity which can range from dyspnea, palpitations, atrial fibrillation, and syncopal episodes to congestive heart failure and sudden death. [intechopen.com]

• Myopathy

  Synonyms MYOPATHY, DESMIN-RELATED, ASSOCIATED WITH MUTATION IN THE CRYAB GENE ; MYOPATHY, MYOFIBRILLAR, 2 ; MYOPATHY, MYOFIBRILLAR, ALPHA-B CRYSTALLIN-RELATED ; MYOPATHY, MYOFIBRILLAR, WITH OR WITHOUT CATARACT AND/OR CARDIOMYOPATHY Modes of inheritance [ncbi.nlm.nih.gov]

  For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 ({601419}). [diseaseinfosearch.org]

  Overview Quick Reference An autosomal dominant form of desmin-related myopathy (DRM), that results in weakness of the proximal and distal limb muscles, cardiomyopathy, and cataract. [oxfordreference.com]

  Alpha-B crystallin-related myofibrillar myopathy Overview Alpha-B crystallinopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with [checkorphan.org]

• Muscle Weakness

  Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. [ncbi.nlm.nih.gov]

  Get Update Overview Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory [diseaseinfosearch.org]

  weakness ; EMG: myopathic abnormalities ; Elevated serum creatine phosphokinase ; Foot dorsiflexor weakness ; Hypertrophic cardiomyopathy ; Late-onset proximal muscle weakness ; Limb-girdle muscle weakness ; Muscle fiber splitting ; Muscular dystrophy [mousephenotype.org]

  Respiratory muscle weakness can also be a major complication in some patients. In this updated article, the author highlights advance in the diagnosis and management of myofibrillar myopathies. [medlink.com]

• Proximal Muscle Weakness

  Late-onset proximal muscle weakness MedGen UID: 871110 • Concept ID: C4025578 • Finding Lack of strength of the proximal musculature occuring late in the clinical course. [ncbi.nlm.nih.gov]

  muscle weakness ; Limb-girdle muscle weakness ; Muscle fiber splitting ; Muscular dystrophy ; Neck muscle weakness ; Respiratory insufficiency due to muscle weakness ; Slow progression Associated Genes CRYAB (Withdrawn symbols: CRYA2, HSPB5 ) Mouse Orthologs [mousephenotype.org]

  Muscle Weakness CMD1X 611615 Genetic Test Registry Cardiomyopathy, Dilated, 1Y Left Ventricular Noncompaction 9 CMD1Y LVNC9 611878 Genetic Test Registry Cardiomyopathy, Dilated, 1Z CMD1Z 611879 Genetic Test Registry Cardiomyopathy, Dilated, 2A Cardiomyopathy [ukgtn.nhs.uk]

  History Autosomal recessive LGMD All patients have a history of progressive, proximal muscle weakness. Described below are the major distinguishing characteristics. [emedicine.medscape.com]

• Neck Muscle Weakness

  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]

  muscle weakness ; Respiratory insufficiency due to muscle weakness ; Slow progression Associated Genes CRYAB (Withdrawn symbols: CRYA2, HSPB5 ) Mouse Orthologs Cryab (Withdrawn symbols: Crya-2, Crya2 ) Source OMIM:608810 (names, synonyms, disease associated [mousephenotype.org]

• Myalgia

  Muscle weakness worsens over time.Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure [ncbi.nlm.nih.gov]

  Patients may also present with elevation of CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease. [emedicine.medscape.com]

• Peripheral Neuropathy

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

  A combination of distal and proximal weakness, cardiomyopathy, peripheral neuropathy, and autosomal dominant inheritance should suggest this disorder ( Nakano et al 1996 ). [medlink.com]

  […] disease type C, severe perinatal form Non-dystrophic myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Opsoclonus-myoclonus syndrome Overlap myositis Paramyotonia congenita of Von Eulenburg Parasitic myositis Periodic paralysis Peripheral [se-atlas.de]

  Peripheral neuropathy may be present. Cardiomyopathy is common and often severe, requiring transplantation in some patients. [emedicine.medscape.com]

• Spastic Paraplegia

  […] dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 4 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia [se-atlas.de]

  paraplegia 15, Alport syndrome, hyperoxaluria, Sjogren-Larsson syndrome, Leber congenital amaurosis, and Bardet-Biedl syndrome. [centogene.com]

• Facial Muscle Weakness

  Facial muscle weakness can cause swallowing and speech difficulties. [ncbi.nlm.nih.gov]

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]

It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [ncbi.nlm.nih.gov]

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

[…] associated athanogene 3 myopathy (MFM6) is caused by a mutation on the BAG3 gene and has been described in a few patients. [48, 49] The BAG family of proteins bind to HSP70/HSC70 (heat shock proteins that act as chaperones to assist with protein folding and prevent [emedicine.medscape.com]