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Rare Disorders

A disease is considered rare in the United States if it affects less than 200,000 Americans (rarediseases.info.nih.gov). There may be as many as 7,000 rare diseases, many of which can cause physical function impairments, ranging from mild to severe (for more info, click here).

During the planning phase, NUCOAT researched the following five rare disorder conditions. This was narrowed down to three conditions (Idiopathic Pulmonary Fibrosis, Systemic Sclerosis, and Myositis) which will be further investigated during the research phase.

 

Selected Rare Disorders for UH3

Myositis

Overview

Myositis is an umbrella term to characterize inflammatory myopathies and other disorders causing muscle weakness and degeneration. Myositis disorders include Sporadic Inclusion Body Myositis, Polymyositis, and Dermatomyositis. Myositis is most often diagnosed in adulthood but can impact people of all ages. Symptoms include muscle weakness, stiffness, and soreness and eventually muscles may display signs of atrophy. Onset of symptoms may occur gradually or suddenly.

Physical Function Impacts

  • Weak grip
  • Irregular gait
  • Increased susceptibility to falls
  • Difficulty lifting arms
  • Difficulty climbing steps

Potential Cause of Physical Function Impacts

  • Muscle weakness
  • Joint pain
  • Muscle stiffness
  • Fatigue

Treatments

  • Prescription medication
  • Physical therapy
  • Surgical removal of calcification or cancer malignancy
  • Dietary modifications

For more information, please see Myositis disorder reports prepared by the National Organization for Rare Disorders (NORD)  (report 1, report 2, and report 3).

Systemic Sclerosis

Overview

Systemic Sclerosis, also known as Systemic Scleroderma, is a disorder which causes rapid growth of connective tissue in internal organs and skin. Systemic sclerosis can affect a wide variety of internal organs, which lends to a large variability of symptoms. It is typically diagnosed between the ages of 30 and 50 and affects predominantly women. Systemic sclerosis symptoms often include joint paint, skin tightening, and Raynaud phenomenon.

Physical Function Impacts

  • Stiff or tight joints
  • Poor balance
  • Irregular gait
  • Difficulty with stairs
  • Weak grip

Potential Causes of Physical Function Impacts

  • Joint pain
  • Tight skin
  • Edema
  • Sarcopenia
  • Fatigue

Treatments

  • Prescription medication
  • Lung transplant
  • Physical therapy
  • Occupational therapy

For more information, please see the Systemic Scleroderma report prepared by the National Organization for Rare Disorders (NORD) here (report).

Idiopathic Pulmonary Fibrosis (IPF)

Overview

Idiopathic Pulmonary Fibrosis is a lung disease that manifests itself in thickening and scarring of the lungs. IPF is a progressive disease that eventually leads to respiratory failure. Disease progression varies in individuals. Some progress rapidly over the first few years after diagnosis, while others experience a very slow progression over many years. Some individuals eventually require a full lung transplant. Early symptoms include shortness of breath and dry cough.

Physical Function Impacts (as reported by IPF patients)

  • Difficulty walking
  • Difficulty exercising
  • Hindered household activities

Potential Causes of Physical Function Impacts

  • Fatigue
  • Shortness of breath
  • Muscle and joint pain

Treatment

  • Prescription Medication
  • Lung transplant
  • Pulmonary rehabilitation
  • Supplemental oxygen

For more information, please see the Idiopathic Pulmonary Fibrosis Dystrophy report prepared by the National Organization for Rare Disorders (NORD) here (report).

Other Considered Rare Disorders

Hepatocellular Carcinoma (HCC)

Facioscapulohumeral Muscular Dystrophy (FSHD)

Overview

Facioscapulohumeral Muscular Dystrophy is a muscle wasting disorder that mainly affects the muscles of the upper body, specifically the face, shoulder blades, and the upper arms. Other muscle groups can be affected. FSHD is typically diagnosed in the teenage years and progresses slowly. Symptoms vary, but can include facial weakness, inability to close eyes, and scapular winging.

Physical Function Impacts

  • Difficulty raising arms
  • Irregular gait
  • Leaning to the affected side
  • Difficulty walking
  • Difficulty carrying heavy objects

Potential Causes of Physical Function Impacts

  • Muscle weakness and atrophy
  • Scapular winging
  • Asymmetric weakness
  • Fatigue

Treatments

  • Orthotics
  • Physical therapy
  • Speech therapy
  • Speech therapy

For more information, please see the Facioscapulohumeral Muscular Dystrophy report prepared by the National Organization for Rare Disorders (NORD) here (report).