List of neuromuscular disorders

Last updated

Below is a partial list of neuromuscular disorders.

Contents

Affecting muscle

Muscular dystrophies

Dystrophinopathies

Limb girdle muscular dystrophies

Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein. [1]

  • LGMD D1 DNAJB6-related
  • LGMD D2 TNP03-related
  • LGMD D3 HNRNPDL-related
  • LGMD D4 calpain3-related
  • LGMD D5 collagen 6-related
  • LGMD R1 calpain3-related (Calpainopathy)
  • LGMD R2 dysferlin-related
  • LGMD R3 α-sarcoglycan-related
  • LGMD R4 β-sarcoglycan-related
  • LGMD R5 γ-sarcoglycan-related
  • LGMD R6 δ-sarcoglycan-related
  • LGMD R7 telethonin-related
  • LGMD R8 TRIM 32-related
  • LGMD R9 FKRP-related
  • LGMD R10 titin-related
  • LGMD R11 POMT1-related
  • LGMD R12 anoctamin5-related
  • LGMD R13 Fukutin-related
  • LGMD R14 POMT2-related
  • LGMD R15 POMGnT1-related
  • LGMD R16 α-dystroglycan-related
  • LGMD R17 plectin-related
  • LGMD R18 TRAPPC11-related
  • LGMD R19 GMPPB-related
  • LGMD R20 ISPD-related
  • LGMD R21 POGLUT1-related
  • LGMD R22 collagen 6-related
  • LGMD R23 laminin α2-related
  • LGMD R24 POMGNT2-related

Congenital muscular dystrophies

Distal muscular dystrophy

Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness.

  • Late adult-onset type 1
  • Late adult-onset type 2a
  • Late adult-onset type 2b
  • Early adult-onset type 1
  • Early adult-onset type 2
  • Early adult-onset type 3

Myofibrillar myopathy

Myofibrillar myopathies are diseases that cause similar findings of affected muscle when viewed under a microscope. [3]

  • Desminopathy
  • Myotilinopathy
  • Zaspopathy
  • Filaminopathy
  • Bag3opathy

Other muscular dystrophies

Congenital myopathies

Metabolic diseases

Mutations causing defects in metabolism can cause muscle damage due to inadequate energy for muscles or accumulation of waste products. [4]

Mitochondrial myopathy

Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the mother with variable expressivity due to heteroplasmy.

Glycogen storage disease

Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism.

Fat oxidation defect

Other metabolic myopathies

Inflammatory myopathies

Other diseases of muscle

Affecting nerve

Neuronopathies

A neuronopathy affects the cell body of a nerve cell in the peripheral nervous system. [5]

Neuropathy

A neuropathy affects the peripheral nerves. [5]

Compressive (entrapment) neuropathies

Upper extremity
  • Median neuropathy at wrist (carpal tunnel syndrome)
  • Proximal median neuropathy
  • Ulnar neuropathy at elbow
  • Ulnar neuropathy at wrist
  • Radial neuropathy
    • at the spiral groove
    • in the axilla
    • superficial radial sensory neuropathy
  • posterior interosseous neuropathy
  • Suprascapular neuropathy
  • Axillary neuropathy
  • Musculocutaneous neuropathy
  • Long thoracic neuropathy
Lower extremity
  • deep peroneal mononeuropathy at the fibular neck
  • common fibular mononeuropathy at the hip
  • deep fibular mononeuropathy at the ankle
  • superficial fibular mononeuropathy
  • sciatic mononeuroapthy at the hip or thigh
  • piriformis syndrome
  • proximal tibial mononeuropathy
  • tarsal tunnel syndrome
  • interdigital neuropathy (Morton's Neuroma)
  • sural mononeuropathy
  • femoral mononeuropathy
  • saphenous mononeuropathy
  • lateral femoral cutaneous neuropathy
  • ilioinguinal neuropathy
  • iliohypogastric neuropathy
  • genitofemoral neuropathy
  • posterior femoral cutaneous neuropathy
  • obturator neuropathy
  • neuropathy of gluteal nerves

Cranial nerve palsies

  • trigeminal nerve
    • trigeminal neuralgia
    • trigeminal sensory neuropathy
    • numb chin syndrome
    • numb cheek syndrome
    • herpes simplex virus infection
  • facial nerve
    • bell's palsy
    • bilateral facial palsy
    • congenital (trauma, Mobius syndrome, cardiofacial syndrome)
  • glossopharyngeal nerve
    • glossopharyngeal neuralgia
    • glomus jugulare tumor
  • vagus nerve injury
  • spinal accessory nerve palsy
  • hypoglossal nerve injury

Affecting neuromuscular junction

Other

Related Research Articles

Kocher–Debré–Semelaigne syndrome (KDSS) is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature, and cognitive impairment.

<span class="mw-page-title-main">Glycogen storage disease</span> Medical condition

A glycogen storage disease is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.

<span class="mw-page-title-main">Somatic nervous system</span> Part of the peripheral nervous system

The somatic nervous system (SNS) is made up of nerves that link the brain and spinal cord to voluntary or skeletal muscles that are under conscious control as well as to skin sensory receptors. Specialized nerve fiber ends called sensory receptors are responsible for detecting information within and outside of the body.

<span class="mw-page-title-main">Limb–girdle muscular dystrophy</span> Medical condition

Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment.

Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.

In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. Myopathy means muscle disease. This meaning implies that the primary defect is within the muscle, as opposed to the nerves or elsewhere.

<span class="mw-page-title-main">Mitochondrial myopathy</span> Muscle disorders caused by mitochondrial dysfunction

Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins. With ATP production deficient in mitochondria, there is an over-reliance on anaerobic glycolysis which leads to lactic acidosis either at rest or exercise-induced.

Polyneuropathy in dogs and cats is a collection of peripheral nerve disorders that often are breed-related in these animals. Polyneuropathy indicates that multiple nerves are involved, unlike mononeuropathy. Polyneuropathy usually involves motor nerve dysfunction, also known as lower motor neuron disease. Symptoms include decreased or absent reflexes and muscle tone, weakness, or paralysis. It often occurs in the rear legs and is bilateral. Most are chronic problems with a slow onset of symptoms, but some occur suddenly.

<span class="mw-page-title-main">Congenital muscular dystrophy</span> Medical condition

Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.

<span class="mw-page-title-main">Bethlem myopathy</span> Medical condition

Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.

<span class="mw-page-title-main">Metabolic myopathy</span> Muscular diseases caused by defects in metabolic processes

Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.

A hardgainer is a person who practices bodybuilding but finds it challenging to develop musculature regardless of the amount of effort put in. The opposite of a hardgainer is an easygainer.

Autosomal recessive cerebellar ataxia describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia.

<span class="mw-page-title-main">LAMA2 related congenital muscular dystrophy</span> Medical condition neuromuscular disorders

LAMA2 muscular dystrophy (LAMA2-MD) is a genetically determined muscle disease caused by pathogenic mutations in the LAMA2 gene. It is a subtype of a larger group of genetic muscle diseases known collectively as congenital muscular dystrophies. The clinical presentation of LAMA2-MD varies according to the age at presentation. The severe forms present at birth and are known as early onset LAMA2 congenital muscular dystrophy type 1A or MDC1A. The mild forms are known as late onset LAMA2 muscular dystrophy or late onset LAMA2-MD. The nomenclature LGMDR23 can be used interchangeably with late onset LAMA2-MD.

References

  1. 1 2 Straub, V; Murphy, A; Udd, B; LGMD workshop study, group. (August 2018). "229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi: 10.1016/j.nmd.2018.05.007 . PMID   30055862. S2CID   51865029.
  2. Wicklund, MP (December 2019). "The Limb-Girdle Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1599–1618. doi:10.1212/CON.0000000000000809. PMID   31794462. S2CID   208531741.
  3. Selcen, D (March 2011). "Myofibrillar myopathies". Neuromuscular Disorders. 21 (3): 161–71. doi:10.1016/j.nmd.2010.12.007. PMC   3052736 . PMID   21256014.
  4. van Adel, BA; Tarnopolsky, MA (March 2009). "Metabolic myopathies: update 2009". Journal of Clinical Neuromuscular Disease. 10 (3): 97–121. doi:10.1097/CND.0b013e3181903126. PMID   19258857. S2CID   3045842.
  5. 1 2 Barohn, RJ; Amato, AA (May 2013). "Pattern-recognition approach to neuropathy and neuronopathy". Neurologic Clinics. 31 (2): 343–61. doi:10.1016/j.ncl.2013.02.001. PMC   3922643 . PMID   23642713.