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]

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]

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]

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

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]

MELAS Syndrome

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms. Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense[…] [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

Chapter First Online: 27 June 2014 Abstract LGMD2N is a very rare form of recessive LGMD, and it is caused by mutation in the POMT2 gene (Table 17.1), which also causes a severe congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies and congenital muscular dystrophy with mental retardation.[…] [link.springer.com]

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: https://doi.org/10.1212/NXG.0000000000000167 Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group[…] [ng.neurology.org]

Muscular Dystrophy-Dystroglycanopathy Type C1

From Wikidata Jump to navigation Jump to search autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1) LGMD2K MDDGC1 limb-girdle muscular dystrophy-intellectual disability syndrome muscular[…] [wikidata.org]

Infantile-Onset Pompe Disease

Hypomyelinating Leukodystrophy Type 5

Abstract "Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification[…] [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]

Aromatic L-Amino Acid Decarboxylase Deficiency

OBJECTIVE/CONTEXT: Long-fasting hypoglycemia in children may be induced by neurotransmitter disorders. A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years. She became pale and sweaty with hypothermia (33.5°C),[…] [ncbi.nlm.nih.gov]

Pompe Disease

Glycogen storage disease type 2, sometimes also referred to as Pompe disease, is a genetic disorder inherited as an autosomal recessive trait. Lack of lysosomal acid α-glucosidase results in the accumulation of glycogen within the cell organelles, and this may cause cardiac and skeletal muscle damage as well as[…] [symptoma.com]

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

Gut. 1994 Aug;35(8):1112-5. Author information 1 University Department of Medicine and Therapeutics, Western Infirmary, Glasgow. Abstract Patients with acute hepatic porphyria are denied essential operations because of concern that general anaesthesia and surgery will precipitate a life threatening porphyric crisis.[…] [ncbi.nlm.nih.gov]

Moebius Syndrome

Temporal bone findings in a case of Möbius syndrome are presented. The most striking pathological feature of the case is that the facial nerves ended in the horizontal segment in the temporal bones on both sides. This finding gives direct evidence that the site of nerve lesion in Möbius syndrome is in the[…] [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

[…] de Winter, J. M., Buck, D., Hidalgo, C., Jasper, J. R., Malik, F. I., Clarke, N. F., ... Granzier, H. (2013). Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics, 50 (6), 383-392. https://doi.org/10.1136/jmedgenet-2012-101470 de Winter, J.M. ; Buck, D. ; Hidalgo,[…] [research.vu.nl]

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]