Delayed Acquisition of Motor Skills: Causes & Reasons

Possible Causes for Delayed Acquisition of Motor Skills

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]

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]

Mowat-Wilson Syndrome

The mental retardation, usually severe, was constant; the delay in the acquisition of motor skills was more variable (table 2). [jmg.bmjjournals.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]

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]

Pitt-Hopkins Syndrome

They also have severly imparied motor skills, including delayed acquisition of walking capability. [news-medical.net]

Those with abnormal EEGs attained motor milestones at similar ages as those with normal EEGs but are markedly delayed compared to the average age of motor skill acquisition [jtggjournal.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]

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]

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]

Congenital Muscular Dystrophy Type Ullrich

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]

Autosomal Recessive Cutis Laxa Type 2A

While muscle hypotonia can lead to secondary delays in motor skill acquisition, in the view of the frequent occurrence of microcephaly, the main contributor to the mild–moderate [nature.com]

Muscle hypotonia can lead to secondary delay in motor skill acquisition. [nature.com]

[…] developmental delay is most likely central in origin. [nature.com]

Infantile-Onset Ascending Hereditary Spastic Paralysis

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes. Clinical and neuroimaging[…] [ncbi.nlm.nih.gov]

MELAS Syndrome

Homepage Rare diseases Search Search for a rare disease MELAS Disease definition MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include[…] [orpha.net]

Limb-Girdle Muscular Dystrophy Type 2Q

Utarbeidet og oppdatert av Helsedirektoratet, gjeldende fra 1. januar 2023. Du kan bruke nettleserens søkefunksjon: PC: trykk ctrl+f Mac: trykk command+f ABC KODE BESKRIVELSE FRA DATO TIL DATO LISTE AAG Aagenæs syndrom 01.01.2000 31.05.2010 B AAG Aagenæs syndrom 01.06.2010 A AAR Aarskog syndrom 01.01.2000[…] [helsedirektoratet.no]

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

Disease Type of connection Congenital muscular dystrophy without intellectual disability Familial isolated dilated cardiomyopathy Muscle-eye-brain disease Walker-Warburg syndrome Proximal myotonic myopathy Synonym(s): - LGMD2M Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare[…] [csbg.cnb.csic.es]

Muscular Dystrophy-Dystroglycanopathy Type C1

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.[…] [books.google.com]

Infantile-Onset Pompe Disease

2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. [Article in English, Spanish] Affiliations PMID: 31339275 DOI: 10.5546/aap.2019.eng.271 Free article Infantile-onset Pompe disease: Diagnosis and management [Article in English, Spanish] Luisa B Bay et al. Arch Argent Pediatr. 2019. Free article Abstract in English,[…] [pubmed.ncbi.nlm.nih.gov]

Hypomyelinating Leukodystrophy Type 5

Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive white matter disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the FAM126A gene. To report three patients of two[…] [ncbi.nlm.nih.gov]

Spinocerebellar Ataxia Type 13

Khare, S., Nick, J. A., Zhang, Y., Galeano, K., Butler, B., Khoshbouei, H., ... Waters, M. F. (2017). A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. PloS one, 12 (5), [e0173565]. https://doi.org/10.1371/journal.pone.0173565 A[…] [experts.umn.edu]

Aromatic L-Amino Acid Decarboxylase Deficiency

AADC stands for Aromatic L-Amino Acid Decarboxylase Deficiency This definition appears somewhat frequently and is found in the following Acronym Finder categories: Science, medicine, engineering, etc. See other definitions of AADC Samples in periodicals archive: The diseases identified to date include: tyrosine[…] [acronymfinder.com]

Pompe Disease

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Researchers have described three types of Pompe disease, which differ in[…] [ghr.nlm.nih.gov]

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]

Delta Aminolevulinate Dehydrase Deficiency

J.H.P. Wilson, A. Edixhoven, R. Koole, F.W.M. de Rooij Erasmus MC, Rotterdam, The Netherlands Background: We have developed an enzymatic assay for plasma aminolevulinic acid (ALA) and porphobilinogen (PBG), which is a more sensitive test for acute intermittent porphyria (AIP) than urine ALA and PBG analysis. Plasma[…] [porphyria.eu]

Moebius Syndrome

Citation, DOI, disclosures and article data Citation: Gaillard F, Deng F, Rasuli B, et al. Möbius syndrome. Reference article, Radiopaedia.org (Accessed on 27 Mar 2023) https://doi.org/10.53347/rID-1711 Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterized by the[…] [radiopaedia.org]

Scapuloperoneal Spinal Muscular Atrophy

Abstract German English Ionenkanalerkrankungen des peripheren Nervensystems können sich primär als Syndrome mit veränderter Schmerzwahrnehmung oder als periphere Neuropathien manifestieren. Von besonderem Interesse sind die Erkrankungen, die durch Mutationen im SCN9A -Gen verursacht werden, das für den[…] [infona.pl]

Central Core Disease

Research article Biochemical Journal Sep 01, 2004, 382 (2) 557-564; DOI: 10.1042/BJ20040580 Abstract Three CCD (central core disease) mutants, R4892W (Arg 4892 →Trp), I4897T and G4898E, in the pore region of the skeletal-muscle Ca 2+ -release channel RyR1 (ryanodine receptor 1) were characterized using a newly[…] [biochemj.org]

Congenital Myopathy with Excess of Thin Filaments

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations Josine Marieke de Winter1,2, Danielle Buck2, Carlos Hidalgo2, Jeffrey R Jasper3, Fady I Malik3, Nigel F Clarke4, Ger J M Stienen1,5, Michael W Lawlor6,7, Alan H Beggs7, Coen A C Ottenheijm1,2, Henk Granzier2 1Department of[…] [jmg.bmj.com]

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 myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic[…] [ncbi.nlm.nih.gov]