eMedicine Specialties > Neurology > Neuromuscular Diseases

Focal Muscular Atrophies: Follow-up

Author: Ramaratnam Sridharan, MD, FRCP, FAAN, Head of the Department of Neurology, Professor, Neurology, Chennai Neurospeciality & Research Institute
Coauthor(s): Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants; Lakshmi Narasimhan Ranganathan, MD, Assistant Professor, Department of Neurology, Stanley Medical College, India
Contributor Information and Disclosures

Updated: Mar 13, 2007

Follow-up

Prognosis

  • The diseases that cause focal muscle wasting are mostly self-limiting and benign. They do not affect the lifespan of the individual.

Miscellaneous

Medicolegal Pitfalls

  • Elicit history of prior poliomyelitis, lymphoma, radiation therapy, or toxic exposure. Document a family history of neurologic disease.
  • To identify the medical disease that causes the focal atrophy, conduct a thorough general and systemic examination and run appropriate laboratory studies.
  • Patients with HIV infection may present with distal motor weakness mimicking a monomelic amyotrophy or ALS, and EMG results may be similar to a motor neuron disease with no multifocal conduction block. Consider the possibility of HIV-associated ALS syndrome, when the disease progression is rapid. The syndrome usually responds well to antiretroviral therapy.
  • Conduct a cost-effective screen for underlying tumor when a paraneoplastic etiology is suspected.
  • Exclude treatable syndromes such as focal myositis, sarcoidosis, or motor neuropathy with anti-GM1 antibodies.
  • Avoid an erroneous diagnosis of ALS, which has grave prognostic implications. The following situations should alert one against making a diagnosis of ALS:
    • Onset of illness before age 35 years
    • Duration of illness longer than 5 years
    • Positive family history
    • History of spontaneous remission
    • History of malignancy, radiation, old poliomyelitis, or electrical injury
    • Weakness in the distribution of individual peripheral nerves, weakness out of proportion to muscle wasting, or sensory symptoms and/or signs
    • Bladder or bowel dysfunction
    • Involvement of extraocular muscles
    • Cerebellar, extrapyramidal, cognitive, and/or psychiatric dysfunctions
    • Significant CK elevation
    • Diffuse white matter disease on MRI
    • Abnormal SNAPs, conduction blocks of motor nerves at nonentrapment sites, or abnormal spontaneous activities in the EMG other than fibrillation or fasciculation potentials
  • Early ALS should not be mistaken for a benign entity. Do not give false assurance to the patient.
  • Disuse muscular atrophy from immobilization is associated with a significant reduction in CMAP amplitude. Do not mistake this for a neuropathy.
  • ALS commonly is regarded as a generalized neurological disease with bilateral symptoms and signs. Not uncommonly, ALS initially presents in a focal or multifocal manner.
    • At times, the symptoms may be limited to the upper limbs, lower limbs, or bulbar muscles, suggesting the possibility of focal spinal cord disorders.
    • In addition, the LMN signs may predominate or may precede (by many months) the appearance of UMN signs.
    • When ALS becomes more generalized, the distribution of weakness and wasting still may be predominantly asymmetrical and in some cases unilateral.

Special Concerns

  • Diagnostic approach
    • When a patient presents with FMA, direct the initial history and physical examination to rule out nonneurologic causes (eg, arthritis, bony and articular injuries) that can lead to limb disuse.
      • The distribution of weakness and wasting, presence of sensory symptoms and signs, and alterations of DTRs may localize the site of lesion to the anterior horn, roots, plexus, peripheral nerves, or muscle.
      • The mode of onset; course of the disease; detailed past, present, and family history; and history of exposure to toxins help establish the diagnosis.
      • At times, simple laboratory investigations, such as ESR, blood glucose, Western blot for HIV, and serum CPK, and chest X-ray may help identify the etiology.
      • Detailed EMG and nerve conduction study may help in the diagnosis of radiculopathies, plexopathies, multifocal motor neuropathy with conduction block, myositis, or myopathy.
      • In rare situations, other investigations such as neuroimaging, muscle or nerve biopsy, and workup for collagenosis, sarcoid, malignancy, or vasculitis may be required.
    • In young patients with upper limb motor involvement and proximal motor conduction block with sensory sparing, suspect the treatable motor neuropathy syndrome that is associated with high-titer anti-GM1 antibodies.
    • Suspect ALS when dysarthria and/or dysphagia are progressive.
    • If a man has a long history of asymmetric motor involvement without UMN or bulbar signs, suspect chronic adult-onset SMA or relatively benign, progressive muscular atrophy.
    • Explore similar involvement in other family members of patients with FMA associated with gynecomastia and infertility, which could suggest bulbospinal muscular atrophy.
    • Suspect distal SMA if motor involvement is associated with pes cavus, hammer toe, or scoliosis.
    • In a young man with sporadic, one-limb LMN involvement without UMN and bulbar signs, suspect monomelic amyotrophy.
 


More on Focal Muscular Atrophies

Overview: Focal Muscular Atrophies
Differential Diagnoses & Workup: Focal Muscular Atrophies
Treatment & Medication: Focal Muscular Atrophies
Follow-up: Focal Muscular Atrophies
Multimedia: Focal Muscular Atrophies
References
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Further Reading

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Keywords

anti-GM1 antibody, multifocal motor neuropathy with conduction block, benign focal amyotrophy, congenital absence of muscles, focal myositis, Hirayama disease, injection myopathy, monomelic amyotrophy, peripheral nerve injuries, plexopathy, poliomyelitis, postpolio progressive muscular atrophy, postradiation toxicity and disease, spinal cord tumors, toxic neuropathies, wasted leg syndrome

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Contributor Information and Disclosures

Author

Ramaratnam Sridharan, MD, FRCP, FAAN, Head of the Department of Neurology, Professor, Neurology, Chennai Neurospeciality & Research Institute
Ramaratnam Sridharan, MD, FRCP, FAAN is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas Y Lorenzo, MD, Chief Editor, eMedicine Neurology; Consulting Staff, Neurology Specialists and Consultants
Nicholas Y Lorenzo, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Neurology
Disclosure: Nothing to disclose.

Lakshmi Narasimhan Ranganathan, MD, Assistant Professor, Department of Neurology, Stanley Medical College, India
Disclosure: Nothing to disclose.

Medical Editor

Donald B Sanders, MD, EMG Laboratory Director, Professor of Medicine (Neurology), Division of Neurology, Duke University Medical Center
Donald B Sanders, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Neurological Association, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Agapito S Lorenzo, MD, Laboratory Director, Associate Professor, Departments of Neurology, Creighton University and University of Nebraska Medical Center
Agapito S Lorenzo, MD is a member of the following medical societies: American Academy of Neurology and American Association of Neuromuscular and Electrodiagnostic Medicine
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Helmi L Lutsep, MD, Associate Professor, Department of Neurology, Oregon Health and Science University; Associate Director, Oregon Stroke Center
Helmi L Lutsep, MD is a member of the following medical societies: American Academy of Neurology and American Stroke Association
Disclosure: Co-Axia Consulting fee Review panel membership; Talecris Consulting fee Review panel membership; AGA Medical Consulting fee Review panel membership; Boehringer Ingelheim Honoraria Speaking and teaching; Boston Scientific Honoraria Speaking and teaching

 
 
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