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
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.[rarediseases.org]
Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia ), and muscle weakness (skeletal myopathy), that often leads to delays in the acquisition[medium.com]
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 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 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]
Muscular Dystrophy-Dystroglycanopathy Type C4
E. Gilbert-Barness, L.A. Barness, P.M. Farrell IOS Press, 06.01.2017 - 960 Seiten The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a[…][books.google.de]
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]
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]