hereditary motor and sensory neuropathy

遺伝性運動感覚性ニューロパチー HMSN

WordNet

1. machine that converts other forms of energy into mechanical energy and so imparts motion
2. a nonspecific agent that imparts motion; "happiness is the aim of all men and the motor of all action"
3. involving or derived from the senses; "sensory experience"; "sensory channels" (同)sensorial

PrepTutorEJDIC

1. 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
2. (電気の)『モーター』,電動機 / エンジン,(特に)内燃機関 / 《英》自動車(motorcar) / 《名詞の前にのみ用いて》 / モーターの;エンジンの;自動車の / モーター(エンジン)による,自動車による / (神経・筋肉について)運動の / 自動車で行く / …‘を'自動車で運ぶ
3. 感覚の
4. 世襲の,親譲りの / 遺伝的な,遺伝性の
5. (次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/14 20:49:09」(JST)

wiki en

[Wiki en表示]

Hereditary motor and sensory neuropathy
Classification and external resources
eMedicine	neuro/468
MeSH	D015417

Hereditary motor and sensory neuropathies (HMSN) are a group of neuropathies which are characterized by their impact upon both afferent and efferent neural communication. HMSN are characterized by non typical neural development, and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies.

Onion bulb formations in a nerve biopsy in a case of HMSN type I

Hereditary motor and sensory neuropathies are disorders in which one or more components of the peripheral autonomic or cranial/spinal system is damaged. In these disorders a patient experiences progressive muscular atrophy and sensory neuropathy of the extremities. These disorders are inherited; if a parent has the disease the offspring have a 50% chance of also having the disease. In these disorders numbness and weakness is usually more pronounced in the legs than in the arms. These disorders are also known as Charcot-Marie-Tooth (CMT) disease, which is divided into seven distinct subtypes. See table below.

The weakness and numbness is caused by parts of the nerves in the extremities deteriorating and no longer receiving messages from the brain nor are sensory axons transmitting messages to the brain. This then causes muscles in the extremities to become very weak because they are not being used.

They are more common than hereditary sensory and autonomic neuropathies.

History

CMT was first described in 1886 by Charcot, Marie, and independently Tooth. In the 1950s further classification occurred and separated patients into two distinct groups. Group one was characterized by slow nerve conduction velocities and demyelinating neuropathy. Group two was characterized by mostly normal nerve conduction velocities and degeneration of axons. In 1975, the disease was again classified further by Dyck into seven distinct diseases:

• HMSN types 1A and 1B (dominantly inherited hypertrophic demyelinating neuropathies)
  • Individuals experience weakness and atrophy in the lower legs in adolescence, and later develop weakness in the hands. Most common type of CMT.
• HMSN type 2 (dominantly inherited neuronal neuropathies)
  • Onset in Adolescence, symptoms similar to type1.
• HMSN type 3 (hypertrophic neuropathy of infancy [Dejerine-Sottas])
  • Onset in infancy and results in delayed motor skills, much more severe than types 1 & 2.
• HMSN type 4 (hypertrophic neuropathy [Refsum] associated with phytanic acid excess)
  • Muscle weakness and atrophy as in other types of CMT, but set apart by being autosomal recessive inheritance.
• HMSN type 5 (associated with spastic paraplegia)
  • Onset between ages 5–12. Lower legs are affected first by muscle weakness and atrophy followed by the upper extremities. Type 5 is also associated with visual and hearing loss.
• HMSN type 6 (with optic atrophy)
  • Early onset muscular weakness and atrophy followed by optic atrophy resulting in vision loss and possibly blindness.
• HMSN type 7 (with retinitis pigmentosa)
  • Later onset with muscular weakness and atrophy mostly in the lower extremities.

Predispositions

Hereditary motor and sensory neuropathy is quite common and is often inherited with other neuromuscular conditions, and these co morbidities cause an accelerated progression of the disease.

Most forms HMSN affects males earlier and more severely than females, but others show no predilection to either sex. HMSN affects all ethnic groups. With the most common forms having no racial prediliections, but other recessively inherited forms tend to impact specific ethnic groups. Onset of HMSN in most common in early childhood, with clinical effects occurring before the age of 10, but some symptoms are lifelong and progress slowly. Therefore these symptoms do not appear until later in life.

Causes

Hereditary motor and sensory neuropathies are genetically inherited. Chromosomes 17 and 1 seem to be the most common chromosomes with mutations. There is also evidence that the disease could be X-linked. If the disease is X-linked it would mean it is sex linked and is inherited in a certain pattern. Males would always be affected if they receive an X with the mutation. However, females would only be affected if they receive two X’s with the mutation, otherwise they would only be considered carriers of the disease. Most often relatives with the disease manifest the same type of the disease.

Symptoms

Neuropathy disorders usually have onset in childhood or young adulthood. However, like many inherited neurological disorders symptoms are variable. Some people experience very mild symptoms while others experience very serious symptoms. Motor symptoms seem to be more predominant that sensory symptoms. Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy. Patients can also suffer from high arched feet, hammer toes, foot drop, foot deformities, and scoliosis. These symptoms are a result of severe muscular weakness and atrophy. In patients suffering from demyelinating neuropathy, symptoms are due to slow nerve conduction velocities, however people with axonal degradation have average to normal nerve conduction velocities.

Foot showing symptoms of HMSN

Diagnosis

Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. In addition to this EMG’s (electromyography) and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is. The electromyography records the electrical activity of skeletal muscles helping physicians see the extent of the damage to the muscles.

Treatment

At this point there is no sure way to treat hereditary motor and sensory neuropathies. However, the majority of people with these diseases are not able to walk and be self-sufficient. Some methods of relief for the disease include: physical therapy, stretching, braces, and sometimes orthopedic surgery. Since foot disorders are common with neuropathy disorders precautions must be taken to strengthen these muscles and use preventative care and physical therapy to prevent injury and deformities. Lastly, genetic counseling maybe be helpful in recognizing genetics precursors to the disease and preparing patients for the disease.

Types

In 1968, HMSN were classified into seven groups:

Type	Other names	Diseases Database	OMIM
HMSN1	Charcot–Marie–Tooth disease type 1	5815	(multiple)
HMSN2	Charcot–Marie–Tooth disease type 2	2343	(multiple)
HMSN3	Dejerine–Sottas disease Charcot–Marie–Tooth disease type 3	5821	145900
HMSN4	Refsum disease	11213	266500
HMSN5	Charcot–Marie–Tooth disease with pyramidal features HMSN with pyramidal features	—	600361
HMSN6	Charcot–Marie–Tooth disease type 6 HMSN with optic atrophy	32095	601152
HMSN7	HMSN+retinitis pigmentosa	32094	—

HMSN is sometimes equated with Charcot–Marie–Tooth disease.

See also

• Hereditary motor and sensory neuropathy with proximal dominance
• Charcot–Marie–Tooth disease
• Hereditary motor neuropathies
• Hereditary sensory and autonomic neuropathies
• Spinal muscular atrophies

References

Further reading

• Reilly MM (October 2000). "Classification of the hereditary motor and sensory neuropathies". Curr. Opin. Neurol. 13 (5): 561–4. doi:10.1097/00019052-200010000-00009. PMID 11073363. 

UpToDate Contents

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• 1. シャルコーマリートゥース病などの一次性の遺伝性運動感覚性ニューロパチー hereditary primary motor sensory neuropathies including charcot marie tooth disease
• 2. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
• 3. 微細重複症候群 microduplication syndromes
• 4. 妊娠に合併した神経障害 neurologic disorders complicating pregnancy
• 5. 多発性神経障害の概要 overview of polyneuropathy

English Journal

• Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.

• Ding J1, Delpire E2.
• Behavioural brain research.Behav Brain Res.2014 Nov 1;274:128-36. doi: 10.1016/j.bbr.2014.08.005. Epub 2014 Aug 10.
• Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC or ACCPN) is an autosomal recessive disease caused by the disruption of the SLC12A6 gene, which encodes the K-Cl cotransporter-3 (KCC3). A ubiquitous deletion of KCC3 in mice leads to severe locomotor d
• PMID 25116249

• Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

• Klein CJ1, Middha S2, Duan X3, Wu Y4, Litchy WJ5, Gu W3, Dyck PJ5, Gavrilova RH1, Smith DI4, Kocher JP2, Dyck PJ5.
• Journal of neurology, neurosurgery, and psychiatry.J Neurol Neurosurg Psychiatry.2014 Nov;85(11):1265-72. doi: 10.1136/jnnp-2013-306740. Epub 2014 Mar 6.
• BACKGROUND: Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited polyneuropathies without genetic diagnosis.METHODS: WES was applied to 24 cases from 15 kindreds. These kindreds had earli
• PMID 24604904

• Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.

• Tey S1, Ahmad-Annuar A, Drew AP, Shahrizaila N, Nicholson GA, Kennerson ML.
• Neurogenetics.Neurogenetics.2014 Oct;15(4):229-35. doi: 10.1007/s10048-014-0414-0. Epub 2014 Jul 16.
• The cytoplasmic dynein heavy chain (DYNC1H1) gene has been increasingly associated with neurodegenerative disorders including axonal Charcot-Marie-Tooth disease (CMT2), intellectual disability and malformations of cortical development. In addition, evidence from mouse models (Loa, catabolite repress
• PMID 25028179

Japanese Journal

• Coenzyme Q10 Therapy in Hereditary Motor Sensory Neuropathy Type VI with Novel Mitofusin 2 Mutation

• Takahashi Ryoichi,Ikeda Tokuhei,Hamaguchi Ayumi,Iwasa Kazuo,Yamada Masahito
• Internal Medicine 51(7), 791-793, 2012
• … Hereditary motor sensory neuropathy type VI (HMSN VI) is hereditary neuropathy accompanied by optic neuropathy. …
• NAID 130002061844

• Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2

• CHEN Bin,ZHENG Riliang,LUAN Xinghua,ZHANG Wei,WANG Zhaoxia,YUAN Yun
• Neuropathology : official journal the Japanese Society of Neuropathology 29(5), 543-547, 2009-10-01
• NAID 10028192205

Related Links

• Hereditary motor and sensory neuropathy | Define Hereditary ...

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• hereditary motor and sensory neuropathy - definition of ...

hereditary motor and sensory neuropathy (HMSN) any of a group of hereditary polyneuropathies involving muscle weakness, atrophy, sensory deficits, and vasomotor changes in the lower limbs. hereditary optic neuropathy ...

Related Pictures

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★リンクテーブル★

リンク元	「シャルコー・マリー・トゥース病」「デジェリン・ソッタ病」「遺伝性運動感覚性ニューロパチー」
関連記事	「motor」「hereditary」「sensory」「neuropathy」「sensor」

「シャルコー・マリー・トゥース病」

　　[★]

英

Charcot-Marie-Tooth disease, CMT, CMTD

同

シャルコー-マリー-トゥース病 Charcot-Marie-Tooth病

関

腓骨筋萎縮症 腓骨部筋萎縮

神経性進行性筋萎縮症 neural progressive muscle atrophy

(上位疾患概念？)遺伝性運動感覚性ニューロパチー hereditary motor and sensory neuropathy HMSN

概念

• 下肢前角細胞より末梢神経の脱髄、軸索変性を伴う神経原性筋萎縮性疾患。
• 遺伝性疾患
• 20歳以下の男子に多い

分類

図2より引用(石山昭彦　国立精神・神経医療研究センター病院小児神経診療部 脳と発達　2019;51:184-9

CMTの分類	脱髄／軸索型、遺伝形式
CMT 1	脱髄型、常染色体優性、HMSN 1と同義
CMT 2	軸索型、遺伝形式を問わない、HMSN 2と同義
CMT 3	Dejerine-Sottas症候群(高度な脱髄、遺伝形式を問わない)
CMT 4	脱髄型、常染色体劣性
CMT X	脱髄または軸索型、X 連鎖性
CMT plus	HMSN V-VIIが該当。ニューロパチー以外の身体的特徴を有する

遺伝性運動感覚性ニューロパチーの分類特徴

図1より引用(石山昭彦　国立精神・神経医療研究センター病院小児神経診療部 脳と発達　2019;51:184-9

HMSN 1	神経肥厚を呈する脱髄型、常染色体優性。 神経伝導速度：低下。(病理)局所的な脱髄、再髄鞘化、オニオンバルブ形成
HMSN 2	腓骨筋萎縮を呈する軸索型。神経伝導速度：正常。(病理)運動感覚神経の変性
HMSN 3	Dejerine-Sottas症候群。幼少期発症の重篤な脱髄型、運動発達遅滞、常染色体劣性
HMSN 4	Refsume 病。(phytanic-CoA hydroxylase(phyH)の欠損)
HMSN 5	痙性対麻痺、錐体路兆候を伴うHMSN
HMSN 6	視神経萎縮を伴うHMSN
HMSN 7	網膜色素変性を伴うHMSN

疫学

• estimated incidence(罹患率?): 17-40/10万人(HIM.2662)
• 有病率：約40/10万人(北欧)

遺伝形式

• 常染色体優性遺伝
• 常染色体劣性遺伝
• 伴性劣性遺伝

• X連鎖劣性遺伝

症状

• 筋萎縮は下肢遠位部に始まる　→　incerted champagne bottle appearance

• 下垂足　→　鶏歩
• 凹足 pes caves(high arched feet)
• steppage gait
• 遠位の感覚消失、遠位の反射消失

• 顔面・体幹・肢帯筋は侵されない　→　生命予後はよい？

参考

• 1. [charged] Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease - uptodate [1]

「デジェリン・ソッタ病」

　　[★]

英

Dejerine-Sottas disease

同

デジェリン・ソッタス病 デジュリーヌ・ソッタ病 Dejerine-Sottas病、肥厚性間質性神経炎 肥厚性間質性ニューロパチー hypertropic interstitial neuropathy、遺伝性運動感覚性ニューロパチーIII型 hereditary motorand sensory neuropathy type III、遺伝性運動感覚性ニューロパチー hereditary motor and sensory neuropathy HMSN

関

シャルコー-マリー-トゥース病

[show details]

デジェリン病 : 1 件
デジェリーヌ病 : 4 件
ドゥジェリーヌ病 : nothing
デジェリン・ソッタス病 : 36 件
デジェリン・ソッタ病 : 47 件
デジュリーヌ・ソッタス病 : 18 件
デジュリーヌ・ソッタ病 : 13 件
ドゥジェリーヌ・ソッタス病 : nothing
ドゥジェリーヌ・ソッタ病 : 1 件

「遺伝性運動感覚性ニューロパチー」

　　[★]

英

hereditary motor sensory neuropathy, hereditary motor and sensory neuropathy, hereditary motor and sensory neuropathies, HMSN

関

デジェリン・ソッタ病

概念

• 遺伝性に発症し、左右対称に筋力低下、筋萎縮を呈し、感覚障害をみとめるニューロパチー。

分類

• 臨床像による分類：HMSN type I ～ type IIV
• 原因遺伝子による分類：シャルコー・マリー・トゥース病という大きな疾患のくくりで分類。

「motor」

　　[★]

• adj.

• 運動の

• n.

• モーター

関

exercise、kinesis、locomote、locomotive、motility、motion、move、movement

　 　 　

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「sensory」

　　[★]

• adj.

• 感覚性の、感覚の、知覚性の

関

sensation、sense、sensing

　 　

「neuropathy」

　　[★] ニューロパチー

同

NARP

　

「sensor」

　　[★]

• n.

• センサー、感知器