Progressive muscular atrophy PDF

Progressive muscular atrophy (PMA) Information for people with or affected by progressive muscular atrophy If you have been diagnosed with a type of motor neurone disease (MND) called progressive muscular atrophy (PMA), you may want to know more about PMA and how to manage the condition Progressive Muscle Atrophy (PMA) is a rare subtype of Motor Neuron Disease (MND) which affects only the lower motor neurons. The diagnosis is based on progressive extremity weakness and atrophy with a rapid evolution and characteristic findings on Nerve Conduction Studies and Electromyography (NCS/EMG).1 The disease may be confused with. Progressive Muscular Atrophy Teerin Liewluck, MDa,b,*, David S. Saperstein, MDc INTRODUCTION PMA is a rare, sporadic, adult-onset, clinically isolated LMN syndrome due to the degeneration of LMNs, including anterior horn cells and brainstem motor nuclei

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  1. iscent of ALS but is sometimes slow with patients surviving for decades.5,10 In contrast wit
  2. Progressive muscular atrophy Multifocal motor neuropathy . 12 Chapter 1 Introduction and aims progression similar to ALS.15 A subgroup of patients, however, have a disease course that is slowly progressive or stationary for years or for decades.16 Mutations in the SOD1 gen
  3. STUDIES IN DISEASES OF MUSCLE XIV. PROGRESSIVE MUSCULAR ATROPHY OF PERONEAL TYPE ASSOCIATED WITH ATROPHY OF THE OPTIC NERVES; REPORT ON A FAMILY A. T. MILHORAT, M.D. NEW YORK Progressive peroneal muscular atrophy associated with bilateral atrophy of the optic nerve is of rare occurrence. Only 6 observers appear to have reported cases of this type

Full text Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (642K), or click on a page image below to browse page by page Progressive muscular atrophy (PMA) PMA affects only a small group of people, with damage mainly occurring in the lower motor neurones. It tends to start earlier, predominantly affecting men below the age of 50 years. It first presents with wasting in the arms, manifesting as weakness and clumsiness of the hands Progressive muscular atrophy, diagnostic code (DC) 8023, refers to progressive spinal muscular atrophy, which is a disease of the spinal cord. Progressive muscular atrophy is subject to presumptive service connection under . 38 CFR 3.309(a) because it is an organic disease of the nervous system Since its first description more than a century ago, there has been much debate about the diagnostic entity progressive muscular atrophy (PMA). Initially, PMA included all forms of progressive amyotrophy. With the identification of several myogenic and neurogenic diseases and the recognition of amyotrophic lateral sclerosis (ALS), PMA was deemed to disappear as a nosologic entity at the end of. Progressive muscular atrophy (PMA) is a rare, sporadic, adult-onset motor neuron disease, clinically characterized by isolated lower motor neuron features; however, clinically evident upper motor neuron signs may emerge in some patients. Subclinical upper motor neuron involvement is identified pathologically, radiologically, and neurophysiologically in a substantial number of patients with PMA

Marked muscular atrophy 1.Aberfeld DC, Namba T (1969) Progressive ophthalmoplegia in Kugelberg-Welander disease. Arch Neurol 20:253-256CAS Article Google Scholar 2.Brembilla C, Lanterna LA, Bonito V, Gardinette M, Dorelli G, Rampini AD et al (2018) Updating superficial siderosis of the central nervous system: bleeding of a dorsal osteophyte into the subarachnoi Progressive muscular atrophy (PMA) is a very rare subtype of motor neuron disease (MND) that affects only the lower motor neurons.PMA is thought to account for around 4% of all MND cases. This is in contrast to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurons, or primary lateral sclerosis, another rare MND variant, which. Progressive spinal muscular atrophy is an adult-onset, nonhereditary progressive disease of the lower motor neurons (LMNs). In 1850, Aran 1 first reported this disease, which he called progressive muscular atrophy (PMA). In 1952, Muller 2 introduced the term progressive spinal muscular atrophy, since then synonymously used with PMA.In this article, we use the term progressive muscular atrophy. Progressive muscular atrophy (PMA) affects lower motor neurons (LMNs). PMA is in contrast to both amyotrophic lateral sclerosis (ALS), in which both upper and lower motor neurons are affected, and primary lateral sclerosis (PLS), in which only upper motor neurons (UMNs) are affected. Patients have typical LMN features such as flaccid weakness. Download Free PDF. Proximal myotonic dystrophy mimicking progressive muscular atrophy. European Journal of Neurology, 2005. Rosanna Cardani. Giovanni Meola. Download PDF. Download Full PDF Package. This paper. A short summary of this paper. 37 Full PDFs related to this paper

Introductionpressed as motor paralysis and muscle atrophy with absent or mild bulbar and upper motor neuron involvement [1], Motor neuron disease is traditionally subclassified as progressive bulbar palsy (PBP), and amyotrophic lateral progressive muscular atrophy patients, based on ten independent reports [6]. Although 2.2 Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 73 , 1686-1692 (2009). CAS Article Google Schola Clinical trials for Progressive Muscular Atrophy. 95 result (s) found for: Progressive Muscular Atrophy. Displaying page 1 of 5. Full Title: Open-label Phase 1b, Dose-ranged, Single and Multiple Dose Study to assess Safety and Pharmacokinetics of TRO19622 in 6-25 year old Spinal Muscular Atrophy (SMA) patients of muscular dystrophies, but differ from the 'pure' muscular dystrophies in a number of respects. Historical Adolescent and adult forms of progressive muscular paralysis were already recognised by Darwell (1830), Bell (1830) and Aran (1850), but these early authors did not dis-tinguish those forms of muscular atrophy secondary to diseases of. ically mediated disorders such as, spinal muscular atrophy (SMA), symmetrical axonal neuropathy and spinal and bulbar muscular atrophy (SBMA).23 Additionally, a sporadic and adult-onset LMN disease has been referred to as progressive muscular atrophy (PMA).34Although the revised El Escorial criteria, th

Spinal muscular atrophy (SMA) is a neuromuscular dis-ease that affects approximately 1 in 6000 to 1 in 11,000 live births inthe UnitedStateswith a highcarrier frequencyof1 in 40 to 60.1-4 SMA is an autosomal recessive disorder caused by mutations in the survival motor neuron (SMN)1 gene and is characterized by degeneration of the motor neurons. Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. This topic will review clinical aspects of spinal muscular atrophy (SMA), with a focus on survival motor neuron 1 ( SMN1) gene-related SMA Progressive Muscular Atrophy. This form is much less common than ALS or PBP. It can be inherited or sporadic. Progressive muscular atrophy mainly affects your lower motor neurons. Weakness usually. 74.70.65 - Spinal Muscular Atrophy Agents - Evrysdi (risdiplam) Background: Spinal muscular atrophy (SMA) is a rare, hereditary disease characterized by loss of motor neurons in the spinal cord and lower brain stem, and results in severe and progressive muscular atrophy, hypotonia, diffuse symmetric weakness, and restrictive lung disease Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many kinds of muscular dystrophy. Symptoms of the most common variety begin in childhood, mostly in boys

Progressive Muscular Atroph

  1. WOHLFART G, FEX J, ELIASSON S. Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. Acta Psychiatr Neurol Scand. 1955; 30 (1-2):395-406. WORDEN DK, VIGNOS PJ., Jr Intellectual function in childhood progressive muscular dystrophy. Pediatrics. 1962 Jun; 29:968-977
  2. ate; after this, admittedly, it occurs three times more frequently in males. 2
  3. Progressive muscular atrophy Unilateral symptoms Electromyography a b s t r a c t Progressive muscular atrophy (PMA), or the lower motor neuron disease, is a sporadic disorder characterized by onset in adulthood, pure lower motor neuron involvement and relatively benign course. Muscle atrophy and weakness may be symmetrical or asymmetri
  4. Historical.1-The first observations on muscular atrophies are found in Boerhaeve's Aphorisms (1709), in which Van Swieten mentions the involvement of the deltoid and that of the intrinsic hand muscles. Later, Charles Bell described syndromes including progressive muscu­ lar atrophy. But it was reserved for Aran and Duchenne in 1850 t
  5. Table 2 Clinical course of patients with progressive muscular atrophy Patient no. Onset Symptom/sign Respiratory/nutrition support IVIg Follow-up, mo ALSFRS-R score Bulbar UMN Initial Final 1 Lower limb 12ND ND 90 45 0 (death) 2 Upper limb 12Tracheotomy, respirator, PEG ND 96 42 0 3 Upper limb 12BiPAP, PEG NE 66 47 0 (death) 4 Upper limb 22ND.
  6. Caregivers of Amyotrophic Lateral Sclerosis (ALS) and Progressive Muscular Atrophy (PMA) patients often experience psychological dis-tress. Yet, it is unclear which factors explain the variance in psycholo-gical distress. This study seeks to evaluate how care demands and perceived control over caregiving influence psychological distres

Progressive Muscular Atrophy - an overview ScienceDirect

The history of progressive muscular atrophy Neurolog

  1. progressive muscular atrophy (PMA). Providing care during th e progressive and fatal disease course of these patients is challenging and many caregivers experience feelings of distress. A blended psychosocial support program based on Acceptance and Commitment Therapy was developed to suppo rt partners of patients with ALS and PMA. The aim of thi
  2. Post syringomyelia progressive muscular atrophy: A late sequel to syringomyelia? Ulrich Batzdorf1 and Michael C. Graves2* Abstract: We review eight cases of syringomyelia with late sequelae of progressive muscular weakness that suggested the diagnosis of amyotrophic lateral sclerosis (ALS)
  3. Objective Progressive muscular atrophy (PMA) is a clinical diagnosis characterised by progressive lower motor neuron (LMN) symptoms/signs with sporadic adult onset. It is unclear whether PMA is simply a clinical phenotype of amyotrophic lateral sclerosis (ALS) in which upper motor neuron (UMN) signs are undetectable. To elucidate the clinicopathological features of patients with clinically.
  4. prolonged periods of muscle disuse due to immobilization, chronic bed rest, physical inactivity, or spaceflight can result in a significant loss of muscle mass and strength ().Understanding the signaling pathways that contribute to disuse muscle atrophy is important in developing countermeasures to prevent this form of skeletal muscle wasting and preserve physiological function ()

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Progressive muscular atrophy - Wikipedi

  1. neuron (LMN) signs is unclear.5 Progressive spinal muscular atrophy (PMA) is an adult onset progressive LMN disorder. There is still debate on whether PMA is a distinct disease entity or whether it represents one end of the spectrum of motor neuron diseases. In favour of the latter claim are the clinical, genetic and pathological feature
  2. Spinal Muscular Atrophy (SMA) is a progressive muscular dystrophy caused by mutations in the Survival Motor Neuron (SMN1) gene. The SMN1 gene encodes for an essential protein called Survival Motor Neuron (SMN). The SMN protein is essential for motor neuron function. A deficiency of the SMN protein results in progressive muscle atrophy and.
  3. g diagnosis. A
  4. Abstract. The endocrine system is an essential regulator of muscle metabolism in both health and disease. Hormones such as growth hormone (GH), insulin-like growth factor-I (IGF-I) and androgens are the main regulators of muscle metabolism in both health and disease; have profound influences on muscle, acting as anabolic factors; and are important regulators of muscle mass

Hereditary progressive muscular dystrophy (HPMD): ICD9 code 359.1, which includes, among other muscular dystrophies: Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) Limb-girdle muscular dystrophy (LGMD) Myotonic muscular dystrophy (MMD): ICD9 code 359.21 Spinal muscular atrophy (SMA): ICD9 codes 335.0, 335.10, 335.11 and 335.1 Numerous nemaline bodies were demonstrated in the pectoralis major muscle of an autopsy case of a 52-year-old woman, who died of respiratory failure after having suffered from spinal progressive muscular atrophy for 1 year. Rod-like structures ultrastructurally indistinguishable from classical nemaline bodies were abundant in both normal-appearing and atrophic myofibers of the pectoralis major. DOI: 10.7196/SAMJ.7785 Corpus ID: 42180949. Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. @article{Albertyn2014AcuteIP, title={Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man.}, author={C. Albertyn and M. Sonderup and A. Bryer and A. Corrigall and P. Mei{\ss}ner and J. Heckmann}, journal={South African.

Disease Course and Prognostic Factors of Progressive

progressive muscular atrophy. To our knowledge, this is the first report describing the unique clinical features of a cervical spinal cord lesion confirmed by magnetic resonance imaging (MRI) in a patient with anti-Ma2 associated paraneoplastic neurological syn-drome. CASE REPORT A 36 year old man was admitted to our hospital fo Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis. Iida M, Fujiwara R, Yamamura Y. Nagoya J Med Sci, 29(2):105-117, 01 Dec 1966 Cited by: 0 articles | PMID: 598452 Progressive muscular atrophy (G12); Progressive bulbar palsy (G12.1); Pseudobulbar palsy (G12.21); Encephalopathy (G32.89); Malnutrition (E40-E46); Post-op feeding, within 4 weeks of surgery (K91), CRF (ESRD) (N17-N19), Cardiomyopathy (I42-I43); Cerebral palsy (G80) Compleat Pediatric 1 Cal 1-13 N/ • Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of motor neurons in the spinal cord and brainstem, leading to progressive muscular atrophy and weakness (Genetics Home Reference 2020, Mercuri et al 2018[a]). SMA is caused by an inherited genetic mutation, and is the most common genetic cause o leads to progressive muscular weakness and atrophy of the skeletal muscles. In SMA type I, the most severe form of SMA, death usually ensues by 2 years of age from respiratory failure or infection. Accurate diagno-sis is now available through genetic testing, an

Progressive muscular atrophy - International Neurology

and Progressive Muscular Atrophy (PMA) care. They provide the majority of support to patients and are often the primary caregivers. ALS and PMA are fatal motor neuron diseases, ALS affecting both upper and lower motor neurons while PMA only affects lower motor neurons. Informal caregivers of patients wit gressive muscular atrophy occurring in childhood are recognized under the title of Werdnig-Hoff-mann paralysis or progressive spinal muscular atrophy of infancy, and must be included in the general grouping of cases, showing chronic de-generative atrophy of lower motor neurones (see Case No. 4). Normal at birth, weakness and copyright Spinal muscular atrophy (SMA) is a neuromuscula r disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy. 30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 i Introduction. Spinal muscular atrophy (SMA) with an incidence of 1 in 10 000 live births is an autosomal recessive neuromuscular disease caused by biallelic mutations in the survival motor neuron 1 (SMN1) gene, resulting in degeneration of motor neurons in the spinal cord, progressive muscle weakness and atrophy.1-3 The best-known determinant of severity of SMA is the number of copies of. A rarer manifestation of the disease is progressive muscle atrophy with only lower motoneuron lesions; this occurs in 5-8% of ALS patients . An extremely rare form of the disease is primary lateral sclerosis (PLS), characterized by a lesion limited to upper motoneurons and affecting 1-4% of patients [ 51 ]

(PDF) Proximal myotonic dystrophy mimicking progressive

progressive muscular dystrophy) consisted of complete muscle group replacement by fat. In postpoliomyelitis atrophy, the distribution was typically asymmetriC and some­ times lacked clinical correlation. In muscular dystrophy, fatty replacement was sym­ metric, showing relative sparing of the psoas and multifidus muscles. In patients wit Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):1027-49 PDF; Prior TW, Russman BS. Spinal muscular atrophy. GeneReviews 2013 Nov 14; Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012 May;11(5):443-52; Markowitz JA, Singh P. For two patients with normal creatine kinase levels, spinal muscular atrophy was excluded by electromyography, as well as muscle biopsy. Clinical data are summarised in table I. The mean age at diagnosis was 14-9 (SD 6-0) years for BMD patients and 25.1(12.8) years for LGD patients, the mean creatine kinase levels were 2968 (2320) IU/1 and 636.

Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity Background: Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearl Sven Brandt. Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy. Opera ex Domo Biologiae Hereditariae Humanae Universitatis Hafniensis. Volumen 22. Copenhagen, Munksgaard, 1951. - Volume 2 Issue

(PDF) Progressive muscular atrophy variant of familial

f. e. batten, m.d., gordon holmes, m.d.; progressive spinal muscular atrophy of infants (werdnig-hoffmann type), brain, volume 35, issue 1, 1 july 1912, pages 3 We use cookies to enhance your experience on our website.By continuing to use our website, you are agreeing to our use of cookies Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. Explore symptoms, inheritance, genetics of this condition Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit. Muscular Atrophy Conference in Bethesda, Maryland, with the goal of formulating strategies to coordinate future clinical trials in spinal muscular atrophy.1 During the conference, it became clear that the wide variation of medical care received by spinal muscular atrophy patients likely increases the variability of outcomes in clinical trials Moraes, Increased muscle PGC-1alpha expression protects from sarcopenia and metabolic disease during aging. Comerford e performance stability Estratto da https: Nolte, [Neurogenic muscular atrophy and selective fibre type atrophies: Ultrastructural observations and their relationship to zidovudine treatment. Akuthota V, Nadler SF

Progressive muscular atrophy (PMA) is a rare subtype of motor neuron disease (MND) that affects only the lower motor neurons.PMA is thought to be 4% of all motor neurone disease cases. This is in different to amyotrophic lateral sclerosis (ALS), the most common form of MND, which affects both the upper and lower motor neurones, or primary lateral sclerosis, another rare MND variant, which. Muscular Atrophy could be genetic for some, and for some there might be a sudden onset due to poor nutrition. It might also occur due to the several other serious co-morbid diseases or disorders like Cancer, HIV, Chronic Obstructive Pulmonary Disorder (COPD), congenital heart disease, severe burns in the body and also renal failure.Extreme starvation could also cause muscle atrophy

Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder characterized by degeneration of groups of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) Original Article from The New England Journal of Medicine — A Case of Progressive Muscular Atrophy Following a Blow on the Hea 335.21 Progressive muscular atrophy ICD-10 Diagnosis Codes G12.0 Infantile spinal muscular atrophy, Type 1 [Werdnig-Hoffmann] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.8 Other spinal muscular atrophies and related syndromes G12.9 Spinal muscular atrophy, unspeci e J. B. Charcot on Progressive Muscular Atrophy, Brain, Volume 18, Issue 4, 1895, Pages 618-619, This PDF is available to Subscribers Only. View Article Abstract & Purchase Options. For full access to this pdf, sign in to an existing account, or purchase an annual subscription

Progressive muscular atrophy in the ALS spectrum Nature

The peroneal type of progressive muscular atrophy : a thesis for the degree of M.D. in the University of Cambridge by Tooth, Howard H. (Howard Henry), 1856-1925, autho In progressive muscu-lar atrophy, lower motor neuron involvement is predominant, with little spasticity. The hyperre-flexia in the representative case is inconsistent with progressive muscular atrophy. During the past two decades, it has been recog-nized that 15 to 20% of persons with ALS have progressive cognitive abnormalities marked b Pdf A Survival Analysis Of 155 Cases Progressive Muscular Atrophy P Mortara Academia Edu. Table showing the pathophysiology and genes involved in mnd overturning the paradigm of spinal muscular atrophy as just a motor neuron disease pediatric neurology story across the motor neuron disease spectrum in 1700 words als therapy development.

Clinical trials for Progressive Muscular Atroph

- Some patients with progressive muscular atrophy progress fairly slowly, prompting the suggestion that the disorder is a variant of spinal muscular atrophy, a much less aggressive motor neuron disease. Other affected individuals presenting with progressive muscular atrophy eventually develop full amyotrophic lateral sclerosis The Treatment of Degenerative Diseases of the Nervous System by Massive Doses of Strychnia, with Special Reference to Tabes Dorsalis, Progressive Muscular Atrophy, Optic Nerve Atrophy and Pseudo. with slowly progressive muscular dystrophies (such as limb-girdle, facioscapulohumeral and myotonic dystrophies) showed improvements with moderate exercise. The one pro-gram we did that seemed to work well was a walking program, where we put pedometers on people and asked the

Disease Course and Prognostic Factors of Progressive

Delay in Diagnosis of Spinal Muscular Atrophy: A

Spinal Muscular Atrophy: Background Information Definition of Spinal Muscular Atrophy Spinal muscular atrophy is an autoso-mal recessive inherited neuromuscular disease characterized by degeneration of the spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. Diagnosis and Incidence This inherited motor neuron disorde progressive spinal muscular atrophy. However, in the Duchenne type of PMD, of which we had three typical cases, spectrophotometry revealed a different feature from that of the con-' trols; there was a maximumat 275 mu in all of the three cases (Fig. 2). In the limb-girdle type, however, for tw

(PDF) Spinal muscular atrophy(PDF) Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann DiseaseATROFIA MUSCULAR ESPINHAL PROGRESSIVA PDF(PDF) Genotype-Phenotype Correlation in Chinese Patients

During muscle atrophy, proteolytic systems are activated, and contractile proteins and organelles are removed, resulting in the shrinkage of muscle fibers. Excessive loss of muscle mass is associated with poor prognosis in several diseases, including myopathies and muscular dystrophies, as well as in systemic disorders such as cancer, diabetes. proximal spinal muscular atrophy' and considered the disorder as an entity simulating progressive muscular dystrophy. In 1956 Kugelberg and Welander published an article entitled 'Heredo-familial juvenile muscular atrophy simulating musculardystrophy'. Thus,K-Wdiseasehasbeen delineated frommuscular dystrophyandcharacter •Progressive muscular atrophy (5%) -Pure LMN onset -May be 'flail limb' appearance •Probably slightly better prognosis. Progressive bulbar palsy Difficulty breathing Muscle weakness. Motor neuron disease II. Differential diagnosis • Diagnosis is clinical -EMG/ imaging may hel progressive unilateral muscular weakness and atrophy a ecting hands and forearm, with sparing of brachioradialis muscle giving an appearance of oblique amyotrophy [ ]. e amyotrophy is unilateral in most patients or asymmetrically bilateral in some. Only a few cases of Hirayama disease with bilateral symmetric involvement have been reporte Spinal muscular atrophy of infantile and juvenile onset, due to metabolic derangement - J. Troost 97 Chapter 8 . Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hiravama'c disease) - K. Hirayama 107 Chapter 9 . Progressive bulbar paralysis of childhood - M . R . Gomez 12 1 Chapter 10 . Progressive dysautonomias - O. The reason that the FRS - Functional Rating Scale fails is that it is trying to impose a simple measurement to a complex and varied disease. In my case, having been diagnosed with the PMA variant of ALS/MND, almost 2 years after diagnosis, I still have only Lower Motor Neuron symptoms. Many of the areas covered by the FRS Scale relate to.