Monomelic amyotrophy

Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.



Input patient's signs and symptoms


Narrow down the case reports



Total: 64 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(51.2%)
12480093
Juvenile muscular atrophy of distal upper extremity associated with airway allergy: two cases successfully treated by plasma exchange.
Ochi H, Murai H, Osoegawa M, Minohara M, Inaba S, Kira J.
J Neurol Sci. 2003;206(1):109-14.
Allergic rhinitis Intrinsic hand muscle atrophy
Adult Homo sapiens Hypersensitivity Magnetic Resonance Imaging Male Muscular Atrophy Plasma Exchange Spinal Cord
2
(45.7%)
7774133
[Electrodiagnosis of neuromuscular diseases--a syndrome of monomelic amyotrophy with spinal hemiatrophy, anti-GM1 antibodies and abnormal F-waves (MASH)].
Kaji R.
Rinsho Shinkeigaku. 1994;34(12):1272-5.
Muscle weakness Hemiatrophy
Adult Differential Diagnosis Electrodiagnosis Electromyography Ganglioside GM1 Homo sapiens Male Motor Neuron Disease Neuromuscular Diseases
3
(36.0%)
27536023
(4934413)
Hirayama Disease with Periscapular Involvement: A Rare Association.
Holla VV, Kumar S, Shukla R.
Ann Neurosci. 2016;23(1):56-9.
Scapular winging
3
(36.0%)
17443045
Scapular winging as a symptom of cervical flexion myelopathy.
Yaguchi H, Takahashi I, Tashiro J, Tsuji S, Yabe I, Sasaki H.
Intern Med. 2007;46(8):511-3.
Myelopathy Scapular winging
Adult Cervical Vertebrae Homo sapiens Male Muscular Atrophy Spinal Cord Diseases
5
(33.4%)
21269859
Cervical flexion myelopathy in a patient showing apparent long tract signs: a severe form of Hirayama disease.
Sakai K, Ono K, Okamoto Y, Murakami H, Yamada M.
Joint Bone Spine. 2011;78(3):316-8.
Myelopathy Hand muscle weakness
Cervical Vertebrae Homo sapiens Male Movement Neck Spinal Cord Spinal Muscular Atrophies of Childhood Spinal Stenosis X-Ray Computed Tomography
5
(33.4%)
14964585
Advanced Hirayama disease with successful improvement of activities of daily living by operative reconstruction.
Chiba S, Yonekura K, Nonaka M, Imai T, Matumoto H, Wada T.
Intern Med. 2004;43(1):79-81.
Intrinsic hand muscle atrophy
Adult Congenital Hand Deformities Hand Strength Homo sapiens Male Range of Motion, Articular Reconstructive Surgical Procedures Recovery of Function Severity of Illness Index Spinal Muscular Atrophies of Childhood
7
(32.6%)
24702785
Mechanisms of upper limb amyotrophy in spinal disorders.
Foster E, Tsang BK, Kam A, Stark RJ.
J Clin Neurosci. 2014;21(7):1209-14.
Cervical cord compression Upper limb amyotrophy
Adult Homo sapiens Magnetic Resonance Imaging Male Middle Aged Muscular Atrophy Spinal Diseases Upper Extremity
7
(32.6%)
19430273
Familial asymmetric distal upper limb amyotrophy (Hirayama disease): report of a Greek family.
Andreadou E, Christodoulou K, Manta P, Karandreas N, Loukaidis P, Sfagos C, Vassilopoulos D.
Neurologist. 2009;15(3):156-60.
Cervical myelopathy Distal upper limb amyotrophy
BSCL2 GARS NELFCD
p|SUB|N|88|S;RS#:137852972 p|SUB|S|90|L;RS#:137852973
Adult Family Females Greece Homo sapiens Male Middle Aged Spinal Muscular Atrophy Upper Extremity
7
(32.6%)
15221630
Hirayama disease: description of an Italian case.
Rigamonti A, Usai S, Curone M, D'Amico D, Bussone G.
Neurol Sci. 2004;25(2):102-3.
Cervical myelopathy Distal upper limb amyotrophy
Adult Brachial Plexus Neuritis Cervical Vertebrae Differential Diagnosis Electromyography Forearm Hand Hand Strength Homo sapiens Male Motor Neuron Disease Muscle Weakness Spinal Cord Diseases Spinal Muscular Atrophy
7
(32.6%)
15140613
Familial monomelic amyotrophy: a case report from India.
Nalini A, Lokesh L, Ratnavalli E.
J Neurol Sci. 2004;220(1-2):95-8.
Upper limb amyotrophy
Adult Electromyography Females Hand Homo sapiens India Male Middle Aged Motor Neuron Disease Muscular Atrophy Spinal Cord
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0001324 Muscle weakness Very frequent (99-80%)
HP:0002817 Abnormality of the upper limb Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0007149 Distal upper limb amyotrophy Very frequent (99-80%)
HP:0002398 Degeneration of anterior horn cells Frequent (79-30%)
HP:0003134 Abnormality of peripheral nerve conduction Frequent (79-30%)
HP:0001337 Tremor Occasional (29-5%)
HP:0002380 Fasciculations Occasional (29-5%)
HP:0002715 Abnormality of the immune system Occasional (29-5%)
HP:0100022 Abnormality of movement Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 16

HPO ID Term # of case reports
HP:0002318 Cervical myelopathy 12
HP:0002196 Myelopathy 8
HP:0002341 Cervical cord compression 3
HP:0001324 Muscle weakness 2
HP:0007149 Distal upper limb amyotrophy 2
HP:0002423 Long-tract signs 1
HP:0002947 Cervical kyphosis 1
HP:0003701 Proximal muscle weakness 1
HP:0005881 Spinal instability 1
HP:0007269 Spinal muscular atrophy 1
HP:0008419 Intervertebral disc degeneration 1
HP:0008469 Cervical vertebral dysplasia 1
HP:0008954 Intrinsic hand muscle atrophy 1
HP:0009129 Upper limb amyotrophy 1
HP:0012393 Allergy 1
HP:0100556 Hemiatrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
CPLANE1 ciliogenesis and planar polarity effector 1 65250
CEP126 centrosomal protein 126 57562