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Muscular Dystrophy-Dystroglycanopathy Type C2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N


Presentation

  • They often present with both weakness and sensory loss in a “ glove and stocking” fashion.[lecturio.com]
  • In general, FSHD typically presents before age 20 years.[scinapse.io]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • An algorithm has been presented to help the clinical evaluation [Algorithm 1].[annalsofian.org]
  • POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum. Mol. Genet. 2014; 23(21):5781-92. PMID: 24925318 Lemmers, RJ, et al.[invitae.com]
Crying
  • Affected individuals lack spontaneous movement at birth, have a weak cry and suck, and have generalized hypotonia and weakness. Feeding difficulties can require gastronomy feeding.[egl-eurofins.com]
Tongue Atrophy
  • Cranial nerve evaluation was normal, including normal facial strength, full extraocular movements, and no tongue atrophy. There were no cataracts or other eye abnormalities. There was decreased muscle bulk in the proximal and distal extremities.[nature.com]
Dolichocephaly
  • He had dolichocephaly. There were no clinical stigmata of neurofibromatosis. There were no cataracts or other eye abnormalities. His cranial nerves were intact without appreciable facial weakness.[nature.com]
Behavior Disorder
  • disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual[se-atlas.de]
Cleft Lip and-or Palate
  • More variable signs include macro- or microcephaly, ventricular dilatation, cleft lip and/or palate, and congenital contractures. WWS has a severe phenotype and death often occurs in the first year of life.[disorders.eyes.arizona.edu]
Profound Mental Retardation
  • mental retardation, and death usually in the first years of life.[abcam.com]
Babinski Sign
  • There was no Babinski sign. His laboratory results were remarkable for a creatine kinase value of 5180 U/l.[nature.com]
Echolalia
  • He had small body habitus with height and weight less Neurological examination demonstrated good expressive articulation, although he had echolalia.[nature.com]

Workup

  • 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]
Myocardial Fibrosis
  • Finsterer et al. reported that cardiac involvement in dystroglycanopathies appears to be more prevalent than in other forms of CMDs and includes dilated and hypertrophic cardiomyopathy, systolic dysfunction, and myocardial fibrosis.[nature.com]

Treatment

  • Treatment: No treatment other than physical therapy is available. Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled.[wohproject.org]
  • Treatment Treatment Options: No effective treatment is available but early indications are that FKRP gene therapy restores functional glycosylation and improves muscle functions.[disorders.eyes.arizona.edu]
  • Early and prompt treatment and early surveillance is much better than waiting for problems to occur and then trying to deal with them.[treat-nmd.eu]
  • 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]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • 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 - Limb-girdle muscular dystrophy- type 2B Not supplied. Treatment - Limb-girdle muscular dystrophy- type 2B Not supplied. Resources - Limb-girdle muscular dystrophy- type 2B Not supplied.[checkorphan.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]
  • Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. Ancillary treatments and support: Respiratory therapy is important when diaphragmatic weakness becomes prominent.[wohproject.org]
  • Prognosis The prognosis of LGMD varies tremendously. Most people with LGMD, however do not have severe symptoms and most experience a normal lifespan. Cardiac and respiratory difficulties can, however, decrease the lifespan.[encyclopedia.com]

Etiology

  • This chapter summarizes the genetic and epigenetic etiology of FSHD and the search for candidate genes, with an emphasis on recent discoveries.[scinapse.io]
  • 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]
  • Dvořáčková Pavla Solařová Lenka Fajkusová Open Access Research article First Online: 19 August 2014 2.6k Downloads 9 Citations Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology[link.springer.com]

Epidemiology

  • 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]
  • 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]
  • Epidemiology LGMD is reported in races and countries throughout the world. Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • Prevention - Limb-girdle muscular dystrophy- type 2B Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2B Not supplied. Prognosis - Limb-girdle muscular dystrophy- type 2B Not supplied.[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]
  • POMT2 gene mutations that cause Walker-Warburg syndrome lead to the formation of nonfunctional POMT enzyme complexes that cannot transfer mannose to α-dystroglycan, preventing its normal glycosylation.[ghr.nlm.nih.gov]
  • 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]

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