Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A four-year-old female child with Kugelberg-Welander syndrome has been presented. She demonstrated ptosis, exotropia, and decreased vision with unilateral high myopia. Unlike the Werdnig-Hoffman type of spinal muscular dystrophy Kugelberg-Welander disease has a protracted, somewhat benign course, necessitating proper evaluation and care of the ocular problems of these patients. The most common among these problems are the presence of severe to moderate ptosis and strabismus which appears usually to be an exotropia.
J Pediatr Ophthalmol Strabismus
PMID:Ocular findings in a patient with Kugelberg-Welander syndrome: a case report. 73 21

A case of unilateral type I Duane's syndrome associated with muscular dystrophy is presented. The diagnosis of muscular dystrophy (Duchenne type) is firmly established by clinical, biochemical, electrophysiological, and histological observations. The ocular anomali is clearly distinguished from other congenital disorders of eye movements. The combination of these two congenital anomalities is considered to be quite rare.
J Pediatr Ophthalmol Strabismus
PMID:Duane's retraction syndrome associated with muscular dystrophy. 73 46

We describe a child with Fukuyama type congenital muscular dystrophy (FCMD) who had several ocular manifestations since birth. These included high myopia, strabismus, nystagmus and optic atrophy of both eyes. Later he developed retinal detachment of both eyes. Our survey of 33 cases with FCMD revealed that high myopia and optic atrophy are common in FCMD. Retinal detachment was reported in two cases in addition to the present one and was considered to be of developmental origin. The association of congenital muscular dystrophy with brain changes and ocular anomalies were found in FCMD, muscle, eye and brain disease (MEB) and Walker-Warburg syndrome (WWS). Ocular manifestations in FCMD were, in general, less severe than those in WWS or MEB. Our study suggests that FCMD, MEB and WWS are developmental abnormalities with a continual spectrum of disease severity.
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PMID:Ocular manifestations in Fukuyama type congenital muscular dystrophy. 224 Apr 63

We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.
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PMID:Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families. 671 63

Administration of succinylcholine to normal individuals results in alterations in muscle membrane integrity expressed as a slight increase in the concentrations of creatine phosphokinase (CK) in serum and appearance of small amounts of myoglobin in the urine, but without clinical symptoms. Subjects with strabismus due to congenital muscular dystrophy may develop more significant rhabdomyolysis expressed as muscle stiffness and weakness, massive myoglobinuria, marked elevation of serum CK and other enzymes, metabolic acidosis, tachycardia and moderate elevation of body temperature. In some cases grave malignant hyperthermia with significant hypoxia, metabolic acidosis, tachycardia and marked abnormalities in serum electrolyte concentrations may cause irreversible damage to the central nervous system and other vital organs and death. A case of difficult anaesthesia for a six year old boy belonging to family affected with muscular dystrophy is presented. More attention must be given to preoperative examination (anamnesis, serum enzymes) or ophthalmological patients and more careful monitoring during anaesthesia and in the early postoperative period must be instituted to prevent and treat complications induced by succinylcholine and volatile anaesthetic agents.
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PMID:Strabismus as a possible sign of subclinical muscular dystrophy predisposing to rhabdomyolysis and myoglobinuria: a study of an affected family. 710 7

Family studies have demonstrated the genetic etiology of concomitant strabismus (prevalence in different populations 1-5%, positive family history in 37% on average), as have twin studies (mean concordance in monozygous twins 73% compared to 35% in dizygous twins). In Duane's syndrome, three chromosomal loci have been identified to date: 2q31, 8q13, and 22q11; loci have also been identified in Moebius syndrome (various inheritance patterns): 13q12.2-q13, 3q21-q22, and 10q21.3-q22, as well as in congenital fibrosis of the extraocular muscles (CFEOM; 3 loci, 1 gene).(1) Already identified are the genes for a number of rarer muscular dystrophy syndromes with ocular involvement, various forms of congenital myasthenia, and mitochondrial diseases (with the primary defect located either in the mtDNA, resulting in a mitochondrial inheritance pattern, or in the nuclear DNA with Mendelian inheritance). A number of hereditary retinal diseases (Mendelian inheritance) may also be associated with strabismus. More than one gene is likely to be involved in the frequently occurring concomitant strabismus, making the analysis more difficult. Patients with chromosomal rearrangements, large families and isolated populations (see also the contributions by Preising and Zitzlsperger et al. in this issue)(2,3) will be instrumental in gene identification. In view of the high prevalence of concomitant strabismus, the disclosure of its etiology will have considerable medical, psychosocial and health-cost impact.
Strabismus 2002 Jun
PMID:Genetics of isolated and syndromic strabismus: facts and perspectives. 1222 94

A Turkish patient with cobblestone lissencephaly and eye involvement without characteristic muscular changes for congenital muscular dystrophy died at the age of 3 months presented with neonatal apneic periods and generalized seizures. Serum creatine kinase level, electromyography, chromosome analysis and blood biochemistry were normal. Unilateral microphthalmia, retinal dysplasia and internal strabismus were the ocular findings. Magnetic resonance imaging clearly demonstrated the thickened, irregular, nearly agyric cobblestone cerebral cortex with underlying unmyelinated white matter, hydrocephalus, hypoplastic corpus callosum, brain stem and cerebellum with retrocerebellar cyst and posterior cephalocele.
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PMID:Walker-Warburg syndrome variant. 1245 9

The congenital muscular dystrophies (CMD) constitute a clinically and genetically heterogeneous group of autosomal recessive myopathies. Patients show congenital hypotonia, muscle weakness, and dystrophic changes on muscle biopsy. Mutations in four genes (FKT1, POMGnT1, POMT1, FKRP) encoding putative glycosyltransferases have been identified in a subset of patients characterized by a deficient glycosylation of alpha-dystroglycan on muscle biopsy. FKRP mutations account for a broad spectrum of patients with muscular dystrophy, from a severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I). We identified two novel homozygous missense FKRP mutations, one, A455D, in six unrelated Tunisian patients and the other, V405L, in an Algerian boy. The patients, between the ages of 3 and 12 years, presented with a severe form of MDC1C with calf hypertrophy and high serum creatine kinase levels. None had ever walked. Two had cardiac dysfunction and one strabismus. They all had mental retardation, microcephaly, cerebellar cysts, and hypoplasia of the vermis. White matter abnormalities were found in five, mostly when cranial magnetic resonance imaging was performed at a young age. These abnormalities were shown to regress in one patient, as has been observed in patients with Fukuyama CMD. Identification of a new microsatellite close to the FKRP gene allowed us to confirm the founder origin of the Tunisian mutation. These results strongly suggest that particular FKRP mutations in the homozygous state induce structural and clinical neurological lesions in addition to muscular dystrophy. They also relate MDC1C to other CMD with abnormal protein glycosylation and disordered brain function.
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PMID:New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 1465 96

Muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities. We report the case of a 9-month-old boy with developmental delay whose family sought evaluation for esotropia. Subsequent examination, imaging, and testing revealed significant motor and cognitive delay, marked weakness with appendicular spasticity, and a diffuse brain malformation. In addition, the patient had poor visual acuity, nystagmus, optic nerve hypoplasia, bilateral retinal dysplasia and retinal dragging with a large vertical angle kappa, and an avascular peripheral retina. Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming MDDGA3. He was treated with botulinum toxin injections for his strabismus and continues to be followed, with planned laser ablation of the peripheral avascular retina.
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PMID:Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. 2955 14

Oculomotor dysfunction in epidermolysis bullosa simplex associated with muscular dystrophy has been reported rarely in the ophthalmic literature. In a series of 6 patients with epidermolysis bullosa simplex associated with muscular dystrophy, 3 demonstrated ptosis, ophthalmoplegia, or both. Ptosis and ophthalmoplegia may occur early in epidermolysis bullosa simplex associated with muscular dystrophy and aid in diagnosis. [J Pediatr Ophthalmol Strabismus. 2018;55:e26-e29.].
J Pediatr Ophthalmol Strabismus 2018 Aug 29
PMID:Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy. 3018 Feb 41


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