Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disease that attacks nerve cells, called motor neurons, in the spinal cord. These cells communicate with your voluntary muscles - the ones you can control, like in your arms and legs. As the neurons die, the muscles weaken. This can affect walking, crawling, breathing, swallowing, and head and neck control.

SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family.

There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.

NIH: National Institute of Neurological Disorders and Stroke

Different Conditions

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Amyotrophic lateral sclerosis-Plus

Subclinical involvement of the cerebellum has been identified in patients with ALS on imaging and neuropathological studies. Manifest cerebellar signs are not usually observed in ALS, but have been reported in a patient with familial ALS associated with SOD1 mutation.
Related ICD 10 COde
ICD 10 Code G12

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Autosomal dominant proximal spinal muscular atrophy

Patients with childhood-onset autosomal dominant proximal spinal muscular atrophy present with proximal lower limb weakness around the age of 2. Weakness and atrophy are most prominent in the quadriceps and hip adductors, with mild weakness of other lower limb muscles. Weakness remains static or very slowly progressive. It is caused by heterozygous mutations in the DYNC1H1 gene (14q32.31).
Related ICD 10 COde
ICD 10 Code G12

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Autosomal recessive proximal spinal muscular atrophy

In SMA type 4 weakness, most commonly develops after 35 years of age (less commonly between 18 to 35 years old). Weakness of proximal muscles is more prominent in the legs than in the arms. Insidious onset and very slow progression are the characteristic features, and life span is normal.
Related ICD 10 COde
ICD 10 Code G12

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Also Known As

  • Distal spinal muscular atrophy, autosomal dominant
  • Distal HMN - [hereditary motor neuropathy] autosomal dominant
  • Related ICD 10 COde
    ICD 10 Code G12

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    Distal hereditary motor neuropathy, autosomal dominant

    Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36.

    Also Known As

  • DHMN1 - [Distal hereditary motor neuropathy type 1]
  • Related ICD 10 COde
    ICD 10 Code G12

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    Distal hereditary motor neuropathy, autosomal recessive

    A single consanguinous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.

    Also Known As

  • Autosomal recessive distal spinal muscular atrophy type 4
  • dSMA4 - [Autosomal recessive distal spinal muscular atrophy type 4]
  • Related ICD 10 COde
    ICD 10 Code G12

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    Infantile spinal muscular atrophy, Type I

    Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a disorder that causes muscle weakness and respiratory failure. Onset of symptoms is typically in early infancy with respiratory difficulties and stridor, feeding difficulties and weak cry. Respiratory failure usually develops between 1 and 6 months of age secondary to diaphragmatic weakness. Progressive distal limb weakness follows. Sensory and autonomic nerves are also affected. SMARD1 is caused by homozygous mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2, 11q13.3).

    Also Known As

  • SMARD 1 - [Infantile spinal muscular atrophy with respiratory distress type 1]
  • Related ICD 10 COde
    ICD 10 Code G12.0

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    Localised spinal muscular atrophy

    A Japanese family was described with prominent neurogenic oculopharyngeal weakness with or without distal or proximal limb weakness. The mode of inheritance was not confirmed.
    Related ICD 10 COde
    ICD 10 Code G12

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    Monomelic amyotrophy

    Monomelic amyotrophy of the upper limb is characterised by slowly progressive, asymmetric weakness most commonly of distal muscles innervated by the C8 and T1 spinal segments. Rarely MMA may present with only proximal upper limb weakness. Asymptomatic or mild involvement of the contralateral upper limb is common. Weakness is usually slowly progressive before reaching a plateau, and symptomatic weakness may spread to the opposite limb. MRI may show focal cervical spinal cord atrophy.

    Also Known As

  • Hirayama disease
  • Related ICD 10 COde
    ICD 10 Code G12

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    Motor neuron disease

    Progressive bulbar palsy (PBP) is a variant of amyotrophic lateral sclerosis that initially presents with symptoms of bulbar weakness such as dysarthria and dysphagia. Symptoms may remain relatively confined to the bulbar region. PBP more commonly affects females than males. Patients typically progress to develop limb weakness and features consistent with more typical ALS at a later stage of disease.

    Abbreviated Terms

  • progressive bulbar paralysis
  • PBP - [progressive bulbar palsy]
  • Related ICD 10 COde
    ICD 10 Code G12

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    Motor neuron diseases or related disorders

    Motor neuron disease is a neurodegenerative disorder of undetermined etiology, characterized by degeneration of upper motor neurons (cortical Betz cells and corticospinal tract) or lower motor neurons (ventral horns of spinal cord and cranial nerve motor nuclei) or both. Features of involvement of lower motor neurons (LMN) are atrophy, weakness, fasciculations, hypotonia, decreased or absent deep tendon reflexes. Features of involvement of upper motor neurons (UMN) are spasticity, exaggerated deep tendon reflexes, and extensor plantar responses. Depending on the site of onset and the presence of UMN or LMN features or both, MND has varying patterns and distributions of signs and symptoms.

    Additional Information

    (In some countries the term motor neuron disease is used synonymously with amyotrophic lateral sclerosis).

    Signs And Symptoms

  • Atrophy (morphologic abnormality)
  • Organ Affected

    Motor neuron (cell)

    Abbreviated Terms

  • anterior horn cell disease
  • bulbar motor neuron disease
  • bulbar palsy
  • bulbar paralysis
  • bulbar syndrome
  • chronic bulbar palsy
  • chronic bulbar paralysis
  • cruveilhier
  • hereditary motor neuron disease
  • labioglossal paralysis
  • lateral complete paralysis
  • lateral incomplete paralysis
  • lateral paralysis
  • lateral spinal sclerosis
  • lateral spine sclerosis
  • polioencephalitis; inferior
  • progressive atrophic paralysis
  • progressive paralysis
  • progressive spinal paralysis
  • spinal progressive amyotrophy
  • supranuclear bulbar paralysis
  • wasting palsy
  • wasting paralysis
  • anterior horn cell disorder
  • Duchenne-Aran atrophy
  • Duchenne-Aran muscle atrophy
  • inferior poliencephalitis
  • Lou Gehrig disease
  • creeping palsy
  • creeping paralysis
  • progressive spinal cord paralysis
  • Also Known As

  • MND - [motor neurone disease]
  • Related ICD 10 COde
    ICD 10 Code G12

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    Related ICD 10 COde
    ICD 10 Code G12

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