U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hand muscle atrophy

MedGen UID:
116091
Concept ID:
C0239830
Finding
Synonyms: Amyotrophy of hand muscles; Hand muscle wasting
 
HPO: HP:0009130

Definition

Muscular atrophy involving the muscles of the hand. [from HPO]

Conditions with this feature

Brown-Vialetto-van Laere syndrome 1
MedGen UID:
163239
Concept ID:
C0796274
Disease or Syndrome
Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS; 105400). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere Syndrome See also BVVLS2 (614707), caused by mutation in the SLC52A2 gene (607882) on chromosome 8q.
Spondyloepiphyseal dysplasia, Reardon type
MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Charcot-Marie-Tooth disease type 2E
MedGen UID:
375127
Concept ID:
C1843225
Disease or Syndrome
A form of axonal Charcot-Marie-Tooth disease a peripheral sensorimotor neuropathy. Onset is in the first to sixth decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and after years all patients have a pes cavus. Other signs may be present including hearing loss and postural tremor.
Neuronopathy, distal hereditary motor, type 7B
MedGen UID:
375157
Concept ID:
C1843315
Disease or Syndrome
The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.
Charcot-Marie-Tooth disease axonal type 2C
MedGen UID:
342947
Concept ID:
C1853710
Disease or Syndrome
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Spinal muscular atrophy, segmental
MedGen UID:
355801
Concept ID:
C1866774
Disease or Syndrome
Segmental spinal muscular atrophy is a form of anterior horn cell disease that affects predominantly the hand muscles (Kamholz et al., 1988). The disease is usually sporadic and nonprogressive.
Congenital myasthenic syndrome 1A
MedGen UID:
419336
Concept ID:
C2931107
Disease or Syndrome
Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003). Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic Syndromes Recessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (608930) are caused by mutation in the CHRNA1 gene (100690); CMS2A (616313) and CMS2C (616314) are caused by mutation in the CHRNB1 gene (100710) on 17p12; CMS3A (616321), CMS3B (616322), and CMS3C (616323) are caused by mutation in the CHRND gene (100720) on 2q33; and CMS4A (605809), CMS4B (616324), and CMS4C (608931) are caused by mutation in the CHRNE gene (100725) on 17p13. CMS5 (603034) is caused by mutation in the COLQ gene (603033) on 3p25; CMS6 (254210) is caused by mutation in the CHAT gene (118490) on 10q; CMS7 (616040) is caused by mutation in the SYT2 gene (600104) on 1q32; CMS8 (615120) is caused by mutation in the AGRN gene (103320) on 1p; CMS9 (616325) is caused by mutation in the MUSK gene (601296) on 9q31; CMS10 (254300) is caused by mutation in the DOK7 gene (610285) on 4p; CMS11 (616326) is caused by mutation in the RAPSN gene (601592) on 11p11; CMS12 (610542) is caused by mutation in the GFPT1 gene (138292) on 2p14; CMS13 (614750) is caused by mutation in the DPAGT1 gene (191350) on 11q23; CMS14 (616228) is caused by mutation in the ALG2 gene (607905) on 9q22; CMS15 (616227) is caused by mutation in the ALG14 gene (612866) on 1p21; CMS16 (614198) is caused by mutation in the SCN4A gene (603967) on 17q; CMS17 (616304) is caused by mutation in the LRP4 gene (604270) on 11p12; CMS18 (616330) is caused by mutation in the SNAP25 gene (600322) on 20p11; CMS19 (616720) is caused by mutation in the COL13A1 gene (120350) on 10q22; CMS20 (617143) is caused by mutation in the SLC5A7 gene (608761) on 2q12; CMS21 (617239) is caused by mutation in the SLC18A3 gene (600336) on 10q11; CMS22 (616224) is caused by mutation in the PREPL gene (609557) on 2p21; CMS23 (618197) is caused by mutation in the SLC25A1 gene (190315) on 22q11; CMS24 (618198) is caused by mutation in the MYO9A gene (604875) on 15q22; and CMS25 (618323) is caused by mutation in the VAMP1 gene (185880) on 12p13.
Hereditary spastic paraplegia 57
MedGen UID:
811490
Concept ID:
C3714897
Disease or Syndrome
An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Charcot-Marie-Tooth disease axonal type 2U
MedGen UID:
906504
Concept ID:
C4084821
Disease or Syndrome
Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Progressive scapulohumeroperoneal distal myopathy
MedGen UID:
905125
Concept ID:
C4225181
Disease or Syndrome
Scapulohumeroperoneal myopathy is an autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. Onset is usually in the first decade and can be as early as infancy, although some patients do not notice symptoms until young adulthood. There is marked variability in severity (summary by Zukosky et al., 2015).
Mitochondrial DNA depletion syndrome 18
MedGen UID:
1713890
Concept ID:
C5394140
Disease or Syndrome
Mitochondrial DNA depletion syndrome-18 (MTDPS18) is an autosomal recessive neuromuscular disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, resulting in loss of ambulation as well as atrophy of the intrinsic hand muscles with clawed hands. Affected individuals may also develop scoliosis and have hypo- or hyperreflexia and decreased pulmonary vital capacity. Examination of skeletal muscle shows neurogenic atrophy and combined mitochondrial oxidative phosphorylation deficiency associated with mtDNA depletion. The clinical phenotype is reminiscent of spinal muscular atrophy (see SMA, 253300) and the metabolic profile is reminiscent of 2-aminoadipic 2-oxoadipic aciduria (AMOXAD; 204750), which is caused by mutation in the DHTKD1 gene (614984) (summary by Boczonadi et al., 2018). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).

Professional guidelines

PubMed

Seok HY, Park J, Kim YH, Oh KW, Kim SH, Kim BJ
J Neurol Neurosurg Psychiatry 2018 Sep;89(9):943-948. Epub 2018 Apr 17 doi: 10.1136/jnnp-2017-317917. PMID: 29666207

Recent clinical studies

Etiology

Diner C, Mathieu L, Vandendries C, Oberlin C, Belkheyar Z
Hand Surg Rehabil 2023 Feb;42(1):9-14. Epub 2022 Nov 26 doi: 10.1016/j.hansur.2022.11.009. PMID: 36574580
Singh RJ, Preethish-Kumar V, Polavarapu K, Vengalil S, Prasad C, Nalini A
Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb;18(1-2):10-16. Epub 2016 Aug 30 doi: 10.1080/21678421.2016.1223140. PMID: 27575868
Fang J, Liu MS, Guan YZ, Du H, Li BH, Cui B, Ding QY, Cui LY
Chin Med J (Engl) 2016 Apr 5;129(7):792-8. doi: 10.4103/0366-6999.178953. PMID: 26996473Free PMC Article
Kim JE, Hong YH, Lee JH, Ahn SW, Kim SM, Park KS, Sung JJ, Lee KW, Seong SY
Muscle Nerve 2015 Mar;51(3):333-7. Epub 2015 Jan 29 doi: 10.1002/mus.24323. PMID: 24958627
Kuwabara S, Sonoo M, Komori T, Shimizu T, Hirashima F, Inaba A, Misawa S, Hatanaka Y; Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group
Muscle Nerve 2008 Apr;37(4):426-30. doi: 10.1002/mus.20949. PMID: 18236469

Diagnosis

Diner C, Mathieu L, Vandendries C, Oberlin C, Belkheyar Z
Hand Surg Rehabil 2023 Feb;42(1):9-14. Epub 2022 Nov 26 doi: 10.1016/j.hansur.2022.11.009. PMID: 36574580
Seok HY, Park J, Kim YH, Oh KW, Kim SH, Kim BJ
J Neurol Neurosurg Psychiatry 2018 Sep;89(9):943-948. Epub 2018 Apr 17 doi: 10.1136/jnnp-2017-317917. PMID: 29666207
Fang J, Liu MS, Guan YZ, Du H, Li BH, Cui B, Ding QY, Cui LY
Chin Med J (Engl) 2016 Apr 5;129(7):792-8. doi: 10.4103/0366-6999.178953. PMID: 26996473Free PMC Article
Menon P, Vucic S
J Vis Exp 2014 Mar 4;(85) doi: 10.3791/51056. PMID: 24637778Free PMC Article
Kuwabara S, Sonoo M, Komori T, Shimizu T, Hirashima F, Inaba A, Misawa S, Hatanaka Y; Tokyo Metropolitan Neuromuscular Electrodiagnosis Study Group
Muscle Nerve 2008 Apr;37(4):426-30. doi: 10.1002/mus.20949. PMID: 18236469

Therapy

Badhiwala JH, Khan O, Wegner A, Jiang F, Wilson JRF, Morgan BR, Ibrahim GM, Wilson JR, Fehlings MG
Sci Rep 2020 Sep 30;10(1):16132. doi: 10.1038/s41598-020-72595-2. PMID: 32999299Free PMC Article

Prognosis

Badhiwala JH, Khan O, Wegner A, Jiang F, Wilson JRF, Morgan BR, Ibrahim GM, Wilson JR, Fehlings MG
Sci Rep 2020 Sep 30;10(1):16132. doi: 10.1038/s41598-020-72595-2. PMID: 32999299Free PMC Article
Seok HY, Park J, Kim YH, Oh KW, Kim SH, Kim BJ
J Neurol Neurosurg Psychiatry 2018 Sep;89(9):943-948. Epub 2018 Apr 17 doi: 10.1136/jnnp-2017-317917. PMID: 29666207
Kim JE, Hong YH, Lee JH, Ahn SW, Kim SM, Park KS, Sung JJ, Lee KW, Seong SY
Muscle Nerve 2015 Mar;51(3):333-7. Epub 2015 Jan 29 doi: 10.1002/mus.24323. PMID: 24958627
Alafifi T, Kern R, Fehlings M
J Neuroimaging 2007 Oct;17(4):315-22. doi: 10.1111/j.1552-6569.2007.00119.x. PMID: 17894620
Woo CC
J Manipulative Physiol Ther 1993 Jun;16(5):336-41. PMID: 8345317

Clinical prediction guides

Diner C, Mathieu L, Vandendries C, Oberlin C, Belkheyar Z
Hand Surg Rehabil 2023 Feb;42(1):9-14. Epub 2022 Nov 26 doi: 10.1016/j.hansur.2022.11.009. PMID: 36574580
Seok HY, Park J, Kim YH, Oh KW, Kim SH, Kim BJ
J Neurol Neurosurg Psychiatry 2018 Sep;89(9):943-948. Epub 2018 Apr 17 doi: 10.1136/jnnp-2017-317917. PMID: 29666207
Fang J, Liu MS, Guan YZ, Du H, Li BH, Cui B, Ding QY, Cui LY
Chin Med J (Engl) 2016 Apr 5;129(7):792-8. doi: 10.4103/0366-6999.178953. PMID: 26996473Free PMC Article
Kim JE, Hong YH, Lee JH, Ahn SW, Kim SM, Park KS, Sung JJ, Lee KW, Seong SY
Muscle Nerve 2015 Mar;51(3):333-7. Epub 2015 Jan 29 doi: 10.1002/mus.24323. PMID: 24958627
Fisher M, Long RR, Drachman DA
Arch Neurol 1983 Dec;40(13):811-5. doi: 10.1001/archneur.1983.04050120061009. PMID: 6639409

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...