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]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

Physicians, Nurse Practitioners and PAs, already on Doximity. [doximity.com]

Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Association for Physician [emedicine.medscape.com]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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 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]

[…] 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 can cause swallowing and speech difficulties. [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]