They often present with both weakness and sensory loss in a “ glove and stocking” fashion. [lecturio.com]

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

22_10dup homozygous mutation was found in 5 patients presenting mild phenotype and cardiac abnormalities. All patients presented a variable residual level of sarcoglycans according to the hypothesized shift of the initiation codon. [ncbi.nlm.nih.gov]

Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable. [chs-journal.com]

[…] beta-sarcoglycan deficiency Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood, Adolescent ICD-10: G71.0 OMIM: 604286 UMLS: C1858593 C2930900 MeSH: - GARD: 3851 870 MedDRA: - The documents contained in this web site are presented [orpha.net]

• Developmental Delay

  Intelligence is generally unaffected by limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. [lgmd-info.org]

  Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. [medlineplus.gov]

  Intelligence is generally unaffected in limb-girdle muscular dystrophy ; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. [ghr.nlm.nih.gov]

  delays in gross motor skills (e.g., walking, alternating steps on stairs). [now.aapmr.org]

• Joint Stiffness

  Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. [lgmd-info.org]

• Osteoporosis

  Osteopenia and osteoporosis due decreased mobilization and immobilization. This can give rise to fractures and scoliosis. Cardiac failure due to cardiomyopathies. [lecturio.com]

  If there is concern for osteoporosis, exercise can be low impact such as swimming and stationary bicycle. Educate patients on the warning signs of over exertion such as dark colored urine (indicating myoglobinuria), muscle pain or cramps. [now.aapmr.org]

• Leg Cramp

  Prognosis - Limb-girdle muscular dystrophy- type 2E Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are also various other causes. [checkorphan.org]

• Limb Weakness

  35 years Proximal leg and arm weakness Distal weakness Tight Achilles tendon Problems with articulation of speech Nasal sounding speech LGMD1B 4–38 years (50% onset childhood) Proximal lower limb weakness Contractures Irregular heart beat Sudden death [encyclopedia.com]

  LGMD1B LMNA/Lamin A/C Young child- to adulthood Normal to Mildly High Slow Symmetric weakness; lower limb early; upper limb late; Spinal rigidity; late contractures Cardiomyopathy; Arrhythmia LGMD1C CAV3/Caveolin-3 childhood to adulthood Mildly High [now.aapmr.org]

  Clinically, patients present in 10–40 years of age group with proximal limb-girdle weakness and tibialis anterior weakness. [annalsofian.org]

• Areflexia

  […] recessive (BIN1) Central core disease of muscle (RYR1) Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia [meduniwien.ac.at]

See Workup for more detail. Management No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential to preserve muscle function, maximize functional ability, and prolong life expectancy. [emedicine.medscape.com]

TREATMENT Treatment for Limb-Girdle Muscular Dystrophy Type 2E is symptomatic depending on the features of an individual. [evolvegene.com]

More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2E is available below. [checkorphan.org]

Treatment: No known treatment is available. Prognosis: An active lifestyle is not possible in this disease much beyond the first decade. [wohproject.org]

Treatment and management So far there are no specific treatments for LGMD2I, however managing the symptoms of the condition improves a person’s quality of life. Keeping mobile is important for all people affected with muscular dystrophy. [lgmd2i.com]

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]

Limb-Girdle Muscular Dystrophy Type 2E can have features that resemble another fatal genetic disorder, Duchenne Muscular Dystrophy, therefore, appropriate diagnosis is essential for proper prognosis and treatment. [evolvegene.com]

Prognosis - Limb-girdle muscular dystrophy- type 2E Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are also various other causes. [checkorphan.org]

The symptoms are similar to DMD but often milder, and patients are less likely to have mental retardation and have a better prognosis (30-40 years instead of teens). [lecturio.com]

Prognosis: An active lifestyle is not possible in this disease much beyond the first decade. Life expectancy with good supportive care is good, however, since many individuals live to adulthood and one patient lived into the seventh decade. [wohproject.org]

Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial. [mdfgauteng.org]

During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle [clinicaltrials.gov]

Etiology Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types. [now.aapmr.org]

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]

licensee BioMed Central Ltd. 2014 Received: 12 May 2014 Accepted: 21 July 2014 Published: 19 August 2014 Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that [bmcneurol.biomedcentral.com]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997, 34:973-977 Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al. [ivyunion.org]

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

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Citation on PubMed Mitsuhashi S, Kang PB. [medlineplus.gov]

Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families. [patient.info]

A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Thompson R, Straub V. [now.aapmr.org]

Sacs knockout mice present pathophysiological defects underlyning autosomal recessive spastic ataxia of Charlevoix-Saguenay. Human Molecular Genetics. 2015 Feb 1;24(3):727-39. [mcgill.ca]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

Pathophysiology Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization. [emedicine.medscape.com]

The rationale was based on anecdotal reports of beneficial effect of steroids and pathophysiologic similarities with Duchenne muscular dystrophy. [ncbi.nlm.nih.gov]

The pathophysiological role of calpain-3 is not exactly known. Immunohistochemical (IHC) analysis of calpainopathy is still not possible as there is no anti-calpain-3 antibody available that is compatible for IHC on muscle biopsy cryosections. [neurologyindia.com]

Causes - Limb-girdle muscular dystrophy- type 2E * Leg disorders * Hip disorders * Knee disorders * Brain disorders * Balance disorders - see causes of balance disorders Inner ear infection Vitamin B12 deficiency * Vision disorders * Nerve disorders Prevention [checkorphan.org]

Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm. [medlineplus.gov]

This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]

A physiotherapist can recommend stretches to keep joints supple and if necessary special splints (orthoses) to prevent muscle shortening (contractures) which are common in some types of LGMD. [mda.org.au]

No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures. *Author: Dr A. van der Kooi (October 2004)*. [beta-sarcoglicanopathy.org]