The benign proximal spinal progressive muscular atrophies. Acta Neurol Scand 1968; 44: 542-560. Op cit., Ref. 2. Op cit., ... Pyruvic and lactic acid metabolism in muscular dystrophy, neuropathies and other neuromuscular disorders. Am J Med Sci 1967; ...

Kennedy WR, Alter M, Sung JH (July 1968). "Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked ... X-Linked Spinal and Bulbar Muscular Atrophy OMIM entries on Spinal and Bulbar Muscular Atrophy, Kennedy's Disease, SBMA, X- ... Linked Spinal and Bulbar Muscular Atrophy Androgen+Receptors at the U.S. National Library of Medicine Medical Subject Headings ... Syndrome OMIM entries on Androgen Insensitivity Syndrome GeneReviews/NIH/NCBI/UW entry on Spinal and Bulbar Muscular Atrophy, ...

Kennedy, W. R.; Alter, M.; Sung, J. H. (1968). "Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex- ... Spinal muscular atrophies Arvin, Shelley (2013-04-01). "Analysis of inconsistencies in terminology of spinal and bulbar ... Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive ... Atsuta, Naoki (2006). "Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients". Brain. ...

Proximal muscles are usually affected earlier and to a greater degree than distal muscles. The severity of SMA symptoms is ... "Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019. "Spinal muscular atrophy". ... "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov. Retrieved 24 October 2020. "Spinal Muscular Atrophy (SMA) , ... "Spinal muscular atrophy". Genetics Home Reference. Retrieved 27 May 2019. "Spinal Muscular Atrophy - Conditions , Children's ...

In general, proximal muscle is always affected more than distal muscle. Spinal muscular atrophy is linked to genetic mutations ... Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by mutations in the SMN1 gene. Symptoms ... This article will cover the epigenetics and treatment of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA ... Disease: amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD), Huntington's disease (HD), spinal muscular atrophy (SMA ...

... muscular dystrophies and spinal muscular atrophy. "Gait > Abnormal". Saint, Sanjay; Wiese, Jeff; Bent, Stephen (2006). Clinical ... The "waddling" is due to the weakness of the proximal muscles of the pelvic girdle. The patient uses circumduction to ...

Spinal muscular atrophy, Jokela type (SMAJ) is an autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is ... progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial ... Spinal muscular atrophy, Jokela type (SMAJ). Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) is a ... Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, ...

... spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p" (PDF ...

Proximal spinal muscular atrophies, i.e., conditions that affect primarily proximal muscles; Distal spinal muscular atrophies ( ... spinal muscular atrophies are traditionally divided into:[citation needed] Autosomal recessive proximal spinal muscular atrophy ... with an exception of X-linked spinal muscular atrophy type 1), only motor neurons, located at the anterior horn of spinal cord ... Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders ...

... atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human ... Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very ... "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24. Zhou, J.; Tawk, M ... National Institutes of Health (December 2013). "Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic ...

... gene-targeted treatments for proximal spinal muscular atrophy (SMA) caused by mutations of the survival motor neuron 1 gene ( ... She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot ... She is the coeditor of the only comprehensive book on SMA: Spinal Muscular Atrophy Disease Mechanisms and Therapy. As part of a ... including spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. ...

Carpenter syndrome Proximal myotonic dystrophy Proximal myotonic myopathy Proximal spinal muscular atrophy Proximal tubulopathy ... leukoencephalopathy Progressive myositis ossificans Progressive osseous heteroplasia Progressive spinal muscular atrophy ... Primary hyperoxaluria Primary hyperparathyroidism Primary lateral sclerosis Primary malignant lymphoma Primary muscular atrophy ... tremor Primary progressive aphasia Primary pulmonary hypertension Primary sclerosing cholangitis Primary tubular proximal ...

... predicted that the infantile and childhood forms of spinal muscular atrophy and of adult-onset proximal muscle atrophy were ... she published papers on muscular dystrophy and multiple myeloma. Spinal muscular atrophy, first described by Johann Hoffmann ... Byers, Randolph K.; Banker, Betty Q. (1961). "Infantile Muscular Atrophy". Archives of Neurology. 5 (2): 140-164. doi:10.1001/ ... She was active in the Muscular Dystrophy Association of America and held many roles, including Vice President and member of the ...

Furthermore, a monomeric form of spinal muscular atrophy, affecting only one leg or arm, should be considered when progressive ... In monoplegia, the spine and the proximal portion of nerves are usually the abnormal sites of limb weakness. Monoplegia ... Traumatic peroneal neuropathy Vaccine-associated paralytic poliomyelitis Hemiparetic seizures Monomeric spinal muscular atrophy ... As in traditional muscular training, FES improves the force with which the unaffected muscles contract. For less severely ...

Tooth disease Hereditary motor neuropathies Hereditary sensory and autonomic neuropathies Spinal muscular atrophies Charcot- ... Hereditary motor and sensory neuropathy with proximal dominance Charcot-Marie- ... These symptoms are a result of severe muscular weakness and atrophy. In patients with demyelinating neuropathy, symptoms are ... Dyck, Peter James; Lambert, Edward H. (1968). "Lower Motor and Primary Sensory Neuron Diseases With Peroneal Muscular Atrophy ...

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is ... Neuromuscular symptoms include progressive proximal muscle weakness, atrophy, and fasciculations. Symptoms of androgen ... Arbizu T, Santamaría J, Gomez JM, Quílez A, Serra JP (June 1983). "A family with adult spinal and bulbar muscular atrophy, X- ... while spinal and bulbar muscular atrophy (SBMA) is associated with a CAG repetition length of 40 or more. Some studies indicate ...

... a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. It has adult-onset symptoms and is ... proximal muscle weakness, delayed deep tendon reflexes (hyporeflexia) especially of the ankles, and a pseudoathletic appearance ... Limb-girdle muscular dystrophy, Duchenne and Becker muscular dystrophy Focal myositis, Sarcoid granulomas, and Amyloid deposits ... Muscle biopsy of hypothyroid myopathy shows atrophy of type II (fast-twitch/glycolytic) muscle fibres and a predominance of ...

Amyotrophic lateral sclerosis Spinal muscular atrophy Spinal muscular atrophy with respiratory distress type 1 Atypical motor ... Proximal median neuropathy Ulnar neuropathy at elbow Ulnar neuropathy at wrist Radial neuropathy at the spiral groove in the ... Duchenne muscular dystrophy Becker muscular dystrophy DMD-associated dilated cardiomyopathy Limb girdle muscular dystrophies ( ... congenital muscular dystrophy (Emery-Dreifuss muscular dystrophy) Collagen VI-related muscular dystrophy (Bethlem myopathy, ...

The pathogenesis of spinal and bulbar muscular atrophy (SBMA) demonstrates that even the mutant AR protein itself can result in ... The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus ... Small Luk Eliana Rubashkyn Sean Saifa Wall Sogto Ochirov Estrogen insensitivity syndrome Spinal and bulbar muscular atrophy ... while spinal and bulbar muscular atrophy (SBMA) is associated with a CAG repetition length of 40 or more. Some studies indicate ...

It is also used in testing paraplegia.[citation needed] Spinal muscular atrophy synd/1228 at Who Named It? W. R. Gowers. A ... myotonic dystrophy and various other conditions associated with proximal muscle weakness, including Becker muscular dystrophy, ... Gowers's sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign ... Gowers's sign is classically seen in Duchenne muscular dystrophy where it is mostly evident at 4-6 years, but also presents ...

... progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy ( ... Weakness can be symmetric or asymmetric, and it can occur in body parts that are distal, proximal, or both. According to ... Spinal muscular atrophies Hereditary motor and sensory neuropathies Ince PG, Clark B, Holton J, Revesz T, Wharton SB (2008). " ... for instance the diseases belonging to the spinal muscular atrophies group. However, they are not classified as "motor neuron ...

... disorder Spinal cord injury Spinal cord neoplasm Spinal dysostosis type Anhalt Spinal muscular atrophy Spinal muscular atrophy ... craniosynostosis Symphalangism brachydactyly Symphalangism Cushing type Symphalangism distal Symphalangism familial proximal ... Spinal muscular atrophy with lower extremity predominance 1 Spinal muscular atrophy with lower extremity predominance 2 Spinal ... muscular atrophy with pontocerebellar hypoplasia Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular ...

... muscular (atrophy, dystrophy...) or neuromuscular disorder. With aging, neuromuscular movements are impaired, though with ... They propagate in the spinal cord, the motor neurons and the set of muscle fibers they innervate. This results in a twitch ... By the age of 70, these losses occur in both proximal and distal muscles. In biceps brachii and brachialis, old adults show ... Some spindles show changes consistent with denervation associated with grouped denervation atrophy. Age-related changes are ...

"Is Spinal Muscular Atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?". Cellular and ... women with osteoporosis and osteoarthritis show different microstructural characteristics of trabecular bone in proximal tibia ... Rheumatoid arthritis Sandhoff Disease Spinal muscular atrophy (SMA, motor neuron disease) Subacute sclerosing panencephalitis ... Multiple system atrophy Muscular dystrophies (MD) Neuronal ceroid lipofuscinosis Niemann-Pick diseases Osteoarthritis ...

Hirayama, K.; Tokumaru, Y. (23 May 2000). "Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper ... With ALS, hand symptoms usually more commonly both proximal and distal vs in MMA mostly distal only, and with ALS ... a focal form of spinal muscular atrophy) or a local consequence of chronic compression from a dural expansion in the cervical ... The disease (disorder) was first described by Keizo Hirayama in 1959 as "juvenile muscular atrophy of unilateral upper ...

RSMD1 is characterized by axial and respiratory weakness, spinal rigidity and scoliosis, and muscular atrophy, and while it is ... Some IQ problems may be present, along with weakness in the proximal muscles. Also of note, a reduction of dolichol phosphate ... Muscular dystrophies Ullrich Congenital Muscular Dystrophy Fukuyama Congenital Muscular Dystrophy Sparks, Susan; Quijano-Roy, ... MDC1C also includes Limb-Girdle muscular dystrophy. In terms of the mechanism of congenital muscular dystrophy, one finds that ...

... aplastic anemia Congenital arteriovenous shunt Congenital articular rigidity Congenital benign spinal muscular atrophy dominant ... proximal duplication Chromosome 14q, terminal deletion Chromosome 14q, terminal duplication Chromosome 15 ring Chromosome 15, ... recessive Charcot-Marie-Tooth peroneal muscular atrophy, X-linked CHARGE syndrome Charles' disease Charlie M syndrome Chavany- ... atrophy Congenital mitral malformation Congenital mitral stenosis Congenital mixovirus Congenital mumps Congenital muscular ...

"AveXis Reports Data from Ongoing Phase 1 Trial of AVXS-101 in Spinal Muscular Atrophy Type 1". Avexis. 6 May 2016. Archived ... AAV capsid proteins contain 12 hypervariable surface regions, with most variability occurring in the threefold proximal peaks, ... spinal muscular atrophy, lipoprotein lipase deficiency, and Parkinson's disease. The AAV genome is built of single-stranded ...

... a denervated target is critically important in order to reduce the possibility of permanent paralysis due to muscular atrophy. ... which consists of the brain and spinal cord) and the peripheral nervous system (which consists of cranial and spinal nerves ... The proximal axons are able to regrow as long as the cell body is intact, and they have made contact with the Schwann cells in ... The proximal segment can either die by apoptosis or undergo the chromatolytic reaction, which is an attempt at repair. In the ...

On degenerative atrophy of the spinal dorsal columns). Ueber Ataxie mit besonderer berücksichtigung der hereditären Formen. In ... sudden muscular contractions in the proximal muscles of the extremities. "Friedreich's foot" or pes cavus: abnormally high ... Friedreich was involved in the establishment of pathological correlations, notably in research of muscular dystrophy, spinal ... It is a degenerative disease with sclerosis of the spinal cord that affects a person's speech, balance and coordination. " ...