Four of the five affected patients had muscle weakness since age 3, strongly worsening during childhood and leading to generalized tetraplegia in adulthood. [ncbi.nlm.nih.gov]

Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

[…] when moving, breathing, eating and swallowing Difficulties in raising the head in an upward position, or in sitting without support Muscles are thin and weak, limbs appearing limp and floppy Breathing problems caused by weakness in the baby’s chest Some [thehumanthebody.com]

This market-leading text covers everything from basic examination and psychological assessment to electrodiagnosis, therapeutic exercise, orthotics and assistive devices, and in-depth clinical management of the full range of childhood disabilities and [books.google.com]

[…] and the ‘Disability Rights Handbook’ annually. [smasupportuk.org.uk]

These disorders usually take several years to result in total disability. [msdmanuals.com]

Conclusions: Despite their severe disabilities and symptoms, most SMARD1 patients are well integrated into their home environment and two thirds of them are able to attend kindergarten or school. [pediatrics.aappublications.org]

[…] influence, low levels of maternal folic acid, maternal hyperthermia and certain classifications of drugs -Impairment and non-fusion of the spinous processes of a vertebrae, however, the spinal cord and meninges remain intact usually with no associated disability [quizlet.com]

Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

Hence clinical features include progressive cerebellar ataxia, or dementia with chorea, or prominent chorea and dystonia or progressive myoclonic epilepsy. [neuroweb.us]

[…] related to central and peripheral nervous system involvement, including muscle amyotrophy, optic atrophy, pigmentary retinopathy, mental retardation, extrapyramidal disease, ataxic syndrome, dementia, deafness, ichthyosis, peripheral neuropathy, and epilepsy [emedicine.medscape.com]

Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

disorders due to brain damage that are non-progressive and acquired in utero, during birth or after infancy -Etiology, can occur before or during birth secondary to lack of oxygen, maternal infections, drug or alcohol abuse, placental abnormalities, [quizlet.com]

Muscle biopsies can be taken with a needle or during a surgical procedure. [britannica.com]

Four of the five affected patients had muscle weakness since age 3, strongly worsening during childhood and leading to generalized tetraplegia in adulthood. [ncbi.nlm.nih.gov]

Muscle weakness may be associated with soreness in the muscles and joint pain. [rarediseases.org]

Muscle weakness Loss of motor neurons in the spinal cord In MND causes muscle weakness.[4].The earliest symptom is usually asymmetrical weakness of one extremity or, with bulbar onset disease, slurring of speech.[5]. [explainmedicine.com]

LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal. [rarediseases.org]

In 4 of the 5 patients having a severe phenotype, symptoms appeared during infancy (2 to 3.5 years), with proximal muscle weakness predominating in the lower limbs and early involvement of foot and hand muscles. [pediatricneurologybriefs.com]

muscle weakness and early involvements of foot and hand Muscle weakness Upper limb, proximal No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal distal Proximal distal (generalized) Sensory [ojrd.biomedcentral.com]

Polymyositis usually appears in people 30-60 years old and presents as insidious onset of symmetrical, proximal muscle weakness, occasionally accompanied by muscle soreness. [dartmouth.edu]

Still others, such as corticosteroids (used to reduce inflammation), affect the muscle metabolism; this is particularly true of the fluoro-substituted corticosteroids, which cause increased catabolism and thereby produce proximal muscle weakness especially [britannica.com]

Additional abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis), thickening and shortening of tissue that cause deformity and [rarediseases.org]

[…] mother is a silent carrier and only male offspring will manifest disease Duchenne Muscular Dystrophy -Symptoms manifest between 2 and 5 years Duchenne Muscular Dystrophy -Progressive weakness, disinterest in running, falling, toe walking, excessive lordosis [quizlet.com]

pain and psychosocial interactions, biomechanics, and more. [books.google.com]

Aseptic meningitis with headache, back pain, and stiff neck develop with increasing severity of the disease. [clinicalgate.com]

brain tumors), including cerebrovascular diseases, dementias and behavioral disorders, demyelinating disorders, and disorders of consciousness and brain death. [books.google.com]

Paralysis spread to become generalized, except for the cranial nerves, and by age 16 years, patients were tetraplegic with areflexia, contractures, and scoliosis, and required assisted respiratory ventilation. Intelligence was preserved. [pediatricneurologybriefs.com]

Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, and varying degrees of bulbar weakness. [amboss.com]

[…] weakness and early involvements of foot and hand Muscle weakness Upper limb, proximal No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal distal Proximal distal (generalized) Sensory loss Yes No Areflexia [ojrd.biomedcentral.com]

The paralysis is usually asymmetrical, predominantly involving the proximal muscles (lower limbs) with pain and tenderness with typical weakness, flaccidity and areflexia. The extent is variable from one muscle group to complete tetraparesis. [neuroweb.us]

Joint contractures, severe progressive scoliosis, and restrictive lung disease were present in most of the SMA II individuals, but these complications were less frequently identified in SMA III. 32 Hand tremor, tongue fasciculations, and areflexia are [clinicalgate.com]

As disease progresses, a hoarse voice can develop and vocal cord paresis have been reported. Life expectancy and intelligence are not affected. [cmtausa.org]

The mechanism of dysarthria is a flaccid or spastic paresis of the musculature of the face, tongue, lips, palate, pharynx and larynx. At the early stage of ALS patient may experience a mild change in his voice or speech. [explainmedicine.com]

 Diagnosis of exclusion Account for 2-4% of ALS Absence of LMN Invovement Presentation in early 50’s Slowly evolving spastic paresis after involving upperlimbs. Median disease duration:19yrs Fasiculation,cramps,bladder dysfunction,cognitivedeficits [slideshare.net]

[…] present -Autosomal recessive ataxia -Results from gene mutation causing abnormal repetition of DNA sequence and ultimately, impaired mitochondrial function -Gait unsteadiness begins early in life and is followed by upper extremity ataxia dysarthria, and paresis [quizlet.com]

In addition, affected individuals exhibit a diffuse conjugate saccadic gaze paresis, especially severe on downgaze. [cmm.ucsd.edu]

[…] identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke [books.google.com]

Upper motor neuron disease Muscle weakness typical of upper motor neuron disease is seen in stroke, producing weakness of one side of the body. The arm is typically flexed, the leg is extended, and the limbs have increased tone. [britannica.com]

Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

Aseptic meningitis with headache, back pain, and stiff neck develop with increasing severity of the disease. [clinicalgate.com]

Examination reveals upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal, or sensory signs. [cmm.ucsd.edu]