Muscle Atrophy/low tone/wasting

What is it?

Muscle wasting disease condition – due to a lack of physical activity of that particular muscle causing muscle weakness and/or overuse of that muscle damaging the muscle.

Progressive muscular atrophy (PMA) is predominantly affecting lower motor neurons.

Cause

Unknown
Family history
Muscle disorders and weakness
Oculopharyngeal muscular dystrophy
Adenylosuccinate lyase deficiency
Camurati-Engelmann disease
Carnosinemia
Central core disease
Centronuclear myopathy
Cerebral folate deficiency
Chiari malformations
Charcot-Marie-Tooth disease (Hereditary Motor and Sensory Neuropathy or Peroneal Muscular Atrophy)
Chromosome 10, distal trisomy 10q and other chromosome deletion disorders
Citrullinemia type I (CTLN1)
Cohen syndrome
Congenital fiber type disproportion
Congenital disorders of glycosylation
Congenital hypomyelination neuropathy (infant)
Creatinine deficiency:
- Creatine transporter deficiency
- Glycine amidinotransferase deficiency
- Guanidinoacetate methyltransferase deficiency
Creutzfeldt-Jakob disease
Cutis marmorata telangiectatica congenita (muscle loss on one side)
Fukuyama type congenital muscular dystrophy (mainly affect Japanese persons)
Fucosidosis
Glycogen storage disease
GNE myopathy
Growth hormone deficiency
Hereditary hyperphosphatasia
Hereditary sensory and autonomic neuropathy type IV (cannot feel temperature and cannot distinguish between hot and cold)
HNRNPU-related disorder
Hyperprolinemia type I
Hyperprolactinemia
Hypomelanosis of Ito (develop areas that lack skin colour)
Lysosomal Lipid Storage and/or Lysosomal Lipid Metabolism Disorders and/or Mucopolysaccharides Metabolism Disorders (Mucopolysaccharidoses)
MAPK8IP3-related neurodevelopmental disorder
MCT8-specific thyroid hormone cell transporter deficiency
Methylmalonic acidemia
Mitochondrial Myopathy and/or Encephalomyopathy
Diabetes
Facioscapulohumeral Muscular Dystrophy (decrease in the ability to lift the arms due to weakness of muscles
Hirayama disease (damage or compression to the spinal cord causing muscle loss and weakness initially forearms and hands mainly in young males).
Inclusion-Body Myositis
Anorexia and Bulimia
Hereditary neuralgic amyotrophy (recurrent episodes of severe pain in the shoulder and arm)
Machado-Joseph Disease
Madelung Disease
MEF2C deficiency
Mucolipidosis IV
Multiple sulfatase deficiency
Peripheral vascular disease
Testosterone deficiency
Progeria
Menopause
Mevalonate kinase deficiency
Molybdenum cofactor deficiency
Mosaic trisomy 9
Mulibrey nanism
Nemaline myopathy
Non-ketotic hyperglycinemia
Neuroacanthocytosis
NGLY1 deficiency
Phosphoenolpyruvate carboxykinase deficiency
Pilomatricoma (Pre-Cancer)
PLA2G6-associated neurodegeneration
PMM2-CDG
Polymayalgia Rheumatica
Polymyositis
Pontocerebellar hypoplasias
Propionic acidemia
Pyruvate carboxylase deficiency
Refsum disease
Sepiapterin reductase deficiency
SETBP1 haploinsufficiency disorder
Shashi-Pena syndrome
Short chain acyl-CoA dehydrogenase deficiency
Spastic paraplegia 47 (SPG47)
Spastic paraplegia 50
Spastic paraplegia 51
Spastic paraplegia 52
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, Kondo-Fu type
STXBP1-related disorders
Succinic semialdehyde dehydrogenase deficiency
Sydenham chorea
SYNCRIP-related neurodevelopmental disorder
Systemic primary carnitine deficiency
TLK2-related neurodevelopmental disorder
Triosephosphate isomerase deficiency
Turner type X-linked syndromic intellectual developmental disorder
Tyrosine hydroxylase deficiency
Ullrich disease
USP7-related diseases
ZC4H2 Associated Rare Disorders (Miles-Carpenter syndrome, Wieacker-Wolff syndrome)

Syndromes

Bachmann-Bupp syndrome (BABS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Berardinelli-Seip syndrome (lack of body fat, extreme muscular appearance)
Cardiofaciocutaneous syndrome
Chanarin-Dorfman syndrome (dry skin and fatty liver disease with lipid which can lead to liver failure, muscle weakness in arms and legs)
CHARGE syndrome (upper body weakness, poor balance, the trunk, and may have sloping shoulders)
Cerebral creatine deficiency syndromes
Coffin-Siris syndrome
Cri du chat syndrome (cry that resembles the mewing of a cat)
De Barsy syndrome (eyes, loose saggy skin, weak muscles)
FG syndrome type 1
Fragile X syndrome
Johanson-Blizzard syndrome
Joubert syndrome
Juberg-Marsidi syndrome
Kabuki syndrome
KAT6B-related disorders
Kleefstra syndrome
Klinefelter syndrome
Levy-Yeboa syndrome
Lowe syndrome
Malan syndrome
Marfan syndrome
Marinesco-Sjögren syndrome
Marshall-Smith syndrome
MECP2 duplication syndrome
Megalocornea-intellectual disability syndrome
MN1 C-terminal truncation syndrome
Moebius syndrome (eyes do not move from side-to-side, facial paralysis or weakness affecting at least one but usually both sides of the face)
Okur-Chung neurodevelopmental syndrome
Opitz trigonocephaly syndrome
Pallister-Killian mosaic syndrome
Prader-Willi syndrome
Parsonage-Turner syndrome (Brachial plexus neuritis-is an uncommon neurological disorder characterised by rapid onset of severe pain in the shoulder and arm)
Pitt-Hopkins syndrome
Rett syndrome (female)
Rosenberg-Chutorian syndrome
Roussy-Lévy Syndrome
Rubinstein-Taybi syndrome
Russell-Silver syndrome
Smith Lemli Opitz syndrome
Sotos syndrome
Shprintzen Goldberg syndrome
Shwachman-Diamond syndrome
Simpson-Golabi-Behmel syndrome
Singleton-Merten syndrome
SLC13A5 citrate transporter disorder
Smith-Magenis syndrome
Smith-Kingsmore syndrome
Snyder-Robinson syndrome
Stickler syndrome
Stuve Wiedemann syndrome
Tatton Brown Rahman Syndrome
Trisomy 13 Syndrome
Trisomy-18 (Edwards syndrome)
Trichorhinophalangeal syndrome type II (Langer-Giedion syndrome)
WAGR syndrome/11p deletion syndrome
Wiedemann-Steiner syndrome
ZC4H2 Associated Rare Disorders (Miles-Carpenter syndrome, Wieacker-Wolff syndrome)
Spinal muscular atrophy:
- ASAH1-related disorders (Farber disease)
  - Small bumps beneath the skin (subcutaneous nodules) – inflamed tissue that are produced in response to a abnormal build up of fatty material (lipids).
  - Joint disease
  - Hoarseness of voice (formation of nodules within the larynx/voice box)
  - Seizures
Valinemia
Very long-chain acyl-CoA dehydrogenase deficiency
Walker-Warburg syndrome
Warburg Micro syndrome
Weaver Syndrome
Wieacker syndrome
Williams-Beuren syndrome
Wolf-Hirschhorn syndrome
Wolman’s Disease
WDR26-related disorder (Skraban-Deardorff syndrome)
XXYY Syndrome

Source: SlideShare

Symptoms

Aching, painful muscles, muscle cramps/spasms/stiffness?
Muscle weakness?
Breathing difficulties?
Feeding difficulties, recurrent indigestion and/or vomiting?
Difficult to stand up and crawl (babies)?
Poor limb reflexes?
Poor lifting of knees?
Poor bend at the waist?
Prone to falling?
Difficult to walk?
Difficult to grip objects?
Muscle twitching in arms, hands and legs?
Poor ankle rotation and stretches?

Complications /Information to beware of/General tips:

Driving Authority

One should notify their driving authority if one has this condition/disease.

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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