nemaline myopathy

WordNet

1. any pathology of the muscles that is not attributable to nerve dysfunction

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/03/24 17:21:54」(JST)

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Nemaline myopathy
Classification and external resources
ICD-10	G71.2
ICD-9	359.0
OMIM	161800 256030 605355
DiseasesDB	31991 33448 33447
eMedicine	neuro/76 neuro/230
GeneReviews	Nemaline myopathy

Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity.

"Myopathy" means "muscle disease," and a biopsy of muscle from a person with nemaline myopathy shows abnormal thread-like rods, called nemaline bodies, in the muscle cells. People with nemaline myopathy (or NM) usually experience delayed motor development and weakness in the arm, leg, trunk, throat, and face muscles.

The disorder is often clinically categorized into several groups, including mild (typical), intermediate, severe, and adult-onset; however, these distinctions are somewhat ambiguous, as the categories frequently overlap. Respiratory problems are a primary concern for people with all forms of NM, and though in some severe cases they may threaten life expectancy, aggressive and proactive care allows most individuals to survive and lead active lives.

Nemaline myopathy is one of forty neuromuscular diseases covered by the Muscular Dystrophy Association.

Genetic qualities

Nemaline myopathy is a clinically and genetically heterogeneous disorder. Both autosomal dominant and autosomal recessive forms occur. Genetic mutations found to be responsible for the disorder include

Gene	Type	OMIM	Locus	Notes
TPM3	NEM1	609284
NEB	NEM2	256030	2q22
ACTA1	NEM3	161800	1q22-q23, 9p13.2-p13.1, 1q42.1
TPM2	NEM4	609285
TNNT1	NEM5	605355	19q13.4	Also known as Amish nemaline myopathy

The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy.

History and early identification

"Rod myopathy" was first identified by Douglas Reye, an Australian physician, in 1958. However, Reye's results were never published because another doctor dismissed his finding of rods in the muscle tissue as an artifact of the biopsy. Forty years later, Reye's "rod myopathy" patient was confirmed to have nemaline myopathy. Another group of Australian researchers has since published an article recognizing Reye for his work.

"Nemaline myopathy" was first named in a published paper in 1963 by North American researchers Cohen and Shy. Today, laboratories performing research on NM are located in the United States (Boston), Finland, and Australia.

Physical characteristics and effects

Physical expression of nemaline myopathy varies greatly, but weakness is usually concentrated in the proximal muscles, particularly respiratory, bulbar and trunk muscles. People with severe NM are usually obviously affected at birth, while those with intermediate or mild NM may initially appear unaffected. Babies with NM are frequently observed to be "floppy" and hypotonic. Children born with NM often gain strength as they grow, though the effect of muscle weakness on body features may become more evident with time. Adults with NM typically have a very slender physique.

Mobility and orthopedics

Most children with mild NM eventually walk independently, although often at a later age than their peers. Some use wheelchairs or other devices to enhance their mobility. Individuals with severe NM generally have limited limb movement and use wheelchairs fulltime.

Because of weakness in the trunk muscles, people with NM are prone to scoliosis, which usually develops in childhood and worsens during puberty. Many individuals with NM undergo spinal fusion surgery to straighten and stabilize their backs. Osteoporosis is also common in NM.

Respiratory involvement

Attention to respiratory issues is critical to the health of all people with NM. Infants with severe NM frequently experience respiratory distress at or soon after birth. Many are ventilated via tracheostomy, and with proper breathing assistance they may attain good health. Though respiratory compromise may not be immediately apparent in people with intermediate or mild NM, it nearly always exists to some extent. As in many neuromuscular disorders, hypoventilation can begin insidiously, and it may cause serious health problems if not remedied by the use of noninvasive mechanical devices to assist breathing, particularly at night.

Communication and eating

Bulbar (throat) muscle weakness is a main feature of nemaline myopathy. Most individuals with severe NM are unable to swallow and receive their nutrition through feeding tubes. Most people with intermediate and mild NM take some or all of their nutrition orally. Bulbar muscle impairment may also lead to difficulty with communication. People with NM often have hypernasal speech as a result of poor closure of the velopharyngeal port (between the soft palate and the back of the throat). Communicative skills may be enhanced through speech therapy, oral prosthetic devices, surgery, and augmentative communication devices. Individuals with NM are usually highly sociable and intelligent, with a great desire to communicate.

Nemaline community

In 1999, the first non-medical webpage on nemaline myopathy was launched, and in October 2004, the first Nemaline Myopathy Convention was held in Toronto, Canada. A second convention took place in the summer of 2007 in Edinburgh, Scotland. In March 2006, Niki Shisler released a book, Fragile, in which she recounted her experiences surrounding the birth of twin sons with severe NM.

References

External links

• Nemaline Myopathy Support Group
• Nemaline Myopathy Foundation
• Muscular Dystrophy Association's (MDA) Information Page on Nemaline Myopathy
• A Washington University site delineating the various forms of NM
• GeneReview/NCBI/NIH/UW entry on Nemaline Myopathy
• http://www.buildingstrength.org A Foundation Building Strength Site contains numerous scientific references on the different types of NM, as well as information regarding diagnosis and management and the potential role of tyrosine in patients with Nemaline Myopathy
• Nemaline myopathy Genetic variations described/checked in SNPedia

UpToDate Contents

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English Journal

• Congenital myopathies: an update.

• Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG.SourceDepartment of Neurology, Children's National Medical Center, Washington, DC, 20010, USA.
• Current neurology and neuroscience reports.Curr Neurol Neurosci Rep.2012 Apr;12(2):165-74.
• Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Re
• PMID 22392505

Japanese Journal

• CLINICAL REPORT : Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy : a case report

• Journal of anesthesia 30(6), 1087-1090, 2016
• NAID 40021035001

• 免疫治療が効果的であったsporadic late onset nemalin myopathyの2例

• 臨床神経学 56(9), 605-611, 2016
• NAID 130005266246

• ACTA1変異を伴うネマリンミオパチーに合併した肥大型心筋症の1例

• 日本小児循環器学会雑誌 32(2), 181-186, 2016
• NAID 130005152272

Related Links

• Nemaline Myopathy - The Support Group

Disclaimer This web site is here as a starting point for anyone seeking more information about nemaline myopathy and contacting other families whose lives are effected by it. The details provided and linked to this site are for ...

• Nemaline myopathy - Genetics Home Reference

Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but ...

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★リンクテーブル★

リンク元	「ネマリンミオパチー」「ネマリンミオパシー」
拡張検索	「autosomal dominant nemaline myopathy」

「ネマリンミオパチー」

　　[★]

英

nemaline myopathy

同

杆状体ミオパチー rod body myopathy、先天性杆状体病 congenital rod disease

関

常染色体優性型ネマリンミオパチー

「ネマリンミオパシー」

　　[★]

英

nemaline myopathy

関

ネマリンミオパチー、常染色体優性型ネマリンミオパチー

「autosomal dominant nemaline myopathy」

　　[★]

常染色体優性型ネマリンミオパチー

関

nemaline myopathy