Possible Causes for delayed acquisition of motor skills Déjerine-Sottas Disease acquisition of motor skills Mild loss of hearing Limitation in eye movements Reduced muscle tone This condition can be diagnosed from the symptoms as well as your child’s [kidbones.net] […] in acquisition of motor skills in childhood occasionally, limitation of eye movements or other eye problems occasionally, mild hearing loss How does Dejerine-Sottas Disease [mda.org.au] Occasionally there could be vision problems, hearing loss and delay in acquisition of motor skills in children. Treatment for this condition is symptomatic. [turmericforhealth.com] Infantile-Onset Ascending Hereditary Spastic Paralysis Abstract We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed[…] [ncbi.nlm.nih.gov] Mowat-Wilson Syndrome The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2). [doi.org] Barth Syndrome […] the acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children [verywellhealth.com] […] of gross motor skills. [medium.com] These symptoms can include: Heart conditions such as arrhythmias, heart failure, and cardiomyopathy Failure to thrive Delays in meeting developmental milestones Delays in [verywellhealth.com] MELAS Syndrome Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a[…] [ncbi.nlm.nih.gov] Rigid Spine Syndrome Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion. [ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD. [ncbi.nlm.nih.gov] Limb-Girdle Muscular Dystrophy Type 2Q Autosomal recessive limb-girdle muscular dystrophy-17 is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). For a discussion of genetic heterogeneity of[…] [ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy Type C2 Primary Outcome Measures : MRI scan for qualitative analysis of muscle involvement [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ] The MRI protocol include T1-weighted brain and whole body examination. Four cross-sectional slices at shoulder, lumbar back, thigh and calf are chosen for[…] [clinicaltrials.gov] Muscular Dystrophy-Dystroglycanopathy Type C4 August 2017 ; 3 (4) Clinical/Scientific Notes Open Access Mateja Smogavec, Jana Zschüntzsch, Wolfram Kress, Julia Mohr, Peter Hellen, Barbara Zoll, Silke Pauli, Jens Schmidt First published July 10, 2017, DOI: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of childhood- or adult-onset inherited[…] [ng.neurology.org] Muscular Dystrophy-Dystroglycanopathy Type C1 Chapter First Online: 27 June 2014 Abstract LGMD2K is caused by mutations in the POMT1 gene, encoding for O-mannosyl-transferase-1 protein (Table 16.1), and results from defective glycosylation of alpha-dystroglycan. This disorder represents the mildest end of the phenotypic spectrum of muscular dystrophies[…] [link.springer.com] Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although [invitae.com] Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion. [ncbi.nlm.nih.gov] delay and mild or moderate limb-girdle involvement during childhood. [invitae.com] Congenital Muscular Dystrophy due to LMNA Mutation Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although [invitae.com] delay and mild or moderate limb-girdle involvement during childhood. [invitae.com] […] variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications and structural brain and eye abnormalities to moderate motor [invitae.com] Muscular Dystrophy-Dystroglycanopathy Type B6 Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion. [ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD. [ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy Type B5 Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion. [ncbi.nlm.nih.gov] Poor or decreased motor abilities, delay or arrest of motor milestones, and joint or spinal deformities are often the presenting features of CMD. [ncbi.nlm.nih.gov] Pitt-Hopkins Syndrome They also have severly imparied motor skills, including delayed acquisition of walking capability. [news-medical.net] Hypomyelinating Leukodystrophy Type 5 OBJECTIVE: To define the clinical and laboratory findings in a novel autosomal recessive white matter disorder called hypomyelination and congenital cataract, recently found to be caused by a deficiency of a membrane protein, hyccin, encoded by the DRCTNNB1A gene located on chromosome 7p21.3-p15.3. METHODS: We[…] [ncbi.nlm.nih.gov] Spinocerebellar Ataxia Type 13 Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased[…] [en.wikipedia.org] Hereditary Areflexic Dystasia C. Haubrich T. Krings J. Senderek S. Züchner J. Schröder J. Noth R. Töpper Diagnostic Neuroradiology Abstract. Hypertrophic radiculopathy is a rare feature of neuropathies. Single cases of enlarged nerve roots have been described in hereditary motor sensory neuropathies (HMSN) and chronic inflammatory[…] [doi.org] Moebius Syndrome Möbius syndrome undoubtedly results from a variety of disorders affecting central or peripheral portions of appropriate cranial nerves or their target muscles. Pathological alterations observed in cranial nuclei are most often viewed as aplastic or dysplastic lesions. Two patients with Möbius syndrome with[…] [ncbi.nlm.nih.gov] Scapuloperoneal Spinal Muscular Atrophy Abstract Scapuloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakness in the distribution of shoulder girdle and peroneal muscles. SP syndromes can resemble facioscapulohumeral muscular dystrophy (FSH) due to scapular weakness or Charcot-Marie-Tooth disease[…] [ncbi.nlm.nih.gov] Central Core Disease Community child health, public health, and epidemiology Central core disease: clinical, pathological, and genetic features R M Quinlivan 1, C R Muller 2, M Davis 3, N G Laing 4, G A Evans 1, J Dwyer 5, J Dove 5, A P Roberts 1, C A Sewry 1 1 Neuromuscular Clinic and Departments of Pathology and Radiology, The Robert Jones[…] [doi.org] Congenital Myopathy with Excess of Thin Filaments Research article Biochemical Journal Apr 01, 2010, 427 (1) 41-48; DOI: 10.1042/BJ20091641 Abstract Mutations in the gene encoding skeletal muscle α-actin ( ACTA1 ) account for approx. 20% of patients with the muscular disorder nemaline myopathy. Nemaline myopathy is a muscular wasting disease similar to muscular[…] [biochemj.org] Congenital Muscular Dystrophy Type 1A Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital[…] [ncbi.nlm.nih.gov] Autosomal Recessive Centronuclear Myopathy Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and[…] [ncbi.nlm.nih.gov] Achondroplasia From Wikidata Jump to navigation Jump to search osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones Chondrodystrophia osteosclerosis congenita achondroplastic physique achondroplastic dwarfism edit English achondroplasia osteochondrodysplasia that results in dwarfism[…] [wikidata.org] Autosomal Recessive Spastic Paraplegia Type 45 Acasa Despre noi Despre noi Parteneri Cursuri Excursii tematice Cursuri diving Pachete corporate Magazin Rebreather Regulator Sailing Swim products Instrumente Labe de inot Lanterna Manusi Masca Costum uscat Cutit si scule Geanta Harponare Imbracaminte Cilindru Cizme Compensator de flotabilitate Computer Costum[…] [scubazone.ro] Autosomal Recessive Spastic Paraplegia Type 56 Chad A. Noggle, Raymond S. Dean, Arthur MacNeill Horton Springer Publishing Company, 2012 - 804 من الصفحات I am pleased to include this text in my library, and I am confident that it will serve as an excellent resource for years to come."-- PsycCRITIQUES This book serves as an A-Z reference that addresses the[…] [books.google.com] Autosomal Recessive Spastic Paraplegia Type 20 Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and[…] [ghr.nlm.nih.gov] Myopathy and Diabetes mellitus We have identified a novel mtDNA mutation in a 29-year-old man with myopathy and diabetes mellitus. This T-- C transition at mtDNA position 14709 alters an evolutionarily conserved nucleotide in the region specifying for the anticodon loop of the mitochondrial tRNA(Glu). The nt-14709 mutation was heteroplasmic but[…] [ncbi.nlm.nih.gov] Usher Syndrome Type 1J Abstract Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in[…] [ncbi.nlm.nih.gov]
