Disease #04046 (MPXPS (myopathy, with extrapyramidal signs (MPXPS)), OMIM:615673)

Official abbreviation MPXPS
Name myopathy, with extrapyramidal signs (MPXPS)
OMIM ID 615673
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 17
Phenotype entries for this disease 17
Associated with 1 gene MICU1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00064044 - PubMed: Logan 2014 9-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents, sister-1 F yes Netherlands - >23y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; ptosis; EMG?; nerve conduction velocity?; MRI brain?; CPK 1000-8900 IU/L; severe learning difficulties MICU1 MICU1 1 2 Marjolein Kriek
00064045 - PubMed: Logan 2014 9-generation family, sister-2 F yes Netherlands - >7y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; dystonia; no paroxysmal ataxia; no short stature; skin vitiligo; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 5000 IU/L; severe learning difficulties MICU1 MICU1 1 1 Marjolein Kriek
00064046 - PubMed: Logan 2014 3-generation family, brother-1 M no Netherlands - >8y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties MICU1 MICU1 1 2 Marjolein Kriek
00064047 - PubMed: Logan 2014 3-generation family, brother-2 M no Netherlands - >3y1m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; no chorea; no dystonia; paroxysmal ataxia; no short stature; normal skin; no microcephaly; hypermetropia; EMG?; nerve conduction velocity?; MRI brain normal; CPK 2000-4000 IU/L; mild learning difficulties MICU1 MICU1 1 1 Marjolein Kriek
00064048 - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 2a M yes United Kingdom (Great Britain) Pakistani >5y - - - MPXPS muscle weakness, proximal, early onset; currently running; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2500 IU/L; mild learning difficulties MICU1 MICU1 1 5 Johan den Dunnen
00064049 - PubMed: Logan 2014 5-generation family, patient 2b F yes United Kingdom (Great Britain) Pakistani >22m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2800 IU/L; no learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064050 - PubMed: Logan 2014 5-generation family, 5 affecteds, unaffected heterozygous carrier parents, patient 3a M yes United Kingdom (Great Britain) Pakistani >5y10m - - - MPXPS muscle weakness, proximal, early onset; currently running; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain?; CPK 1300 IU/L; mild learning difficulties MICU1 MICU1 1 5 Johan den Dunnen
00064051 - PubMed: Logan 2014 5-generation family, patient 3b F yes United Kingdom (Great Britain) Pakistani >3y2m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; no chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; no microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK -; severe learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064052 - PubMed: Logan 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistani >10y8m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin atopic dermatitis; microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 300-4000 IU/L; severe learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064053 - PubMed: Logan 2014 4-generation family, 2 affecteds, unaffected heterozygous carrier parents, atient 5 M yes United Kingdom (Great Britain) Pakistani >13y7m - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; severe chorea; no dystonia; no paroxysmal ataxia; no short stature; skin icthyosis; no microcephaly; no ophthalmology; EMG normal; normal nerve conduction velocity; MRI brain normal; CPK 6000-12500 IU/L; severe learning difficulties MICU1 MICU1 1 2 Johan den Dunnen
00064054 - PubMed: Logan 2014 4-generation family, patient 6 F yes United Kingdom (Great Britain) Pakistani >10y8m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; severe chorea; dystonia; no paroxysmal ataxia; no short stature; skin icthyosis, atopic dermatitis; microcephaly; optic atrophy; EMG myopathic; normal nerve conduction velocity; MRI brain normal; CPK 4800 IU/L; severe learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064055 - PubMed: Logan 2014 unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Pakistani >6y - - - MPXPS muscle weakness, proximal, early onset; currently climbing stairs with support; chorea; dystonia; no paroxysmal ataxia; short stature; skin icthyosis; microcephaly; no ophthalmology; EMG?; nerve conduction velocity?; MRI brain?; CPK 2900-4200 IU/L; severe learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064056 - PubMed: Logan 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents,patient 8a F no United Kingdom (Great Britain) Pakistani >27y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; chorea; no dystonia; paroxysmal ataxia; short stature; normal skin; no microcephaly; nystagmus; EMG myopathic; nerve conduction velocity reduced; MRI brain normal; CPK 8000 IU/L; severe learning difficulties MICU1 MICU1 1 2 Johan den Dunnen
00064057 - PubMed: Logan 2014 2-generation family, patient 8b F no United Kingdom (Great Britain) Pakistani >17y - - - MPXPS muscle weakness, proximal, early onset; currently ambulant with support; chorea; no dystonia; no paroxysmal ataxia; no short stature; normal skin; microcephaly; no ophthalmology; EMG myopathic; nerve conduction velocity increased; MRI brain small cerebellum; CPK 1600 IU/L; mild learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00064058 - PubMed: Logan 2014 unaffected heterozygous carrier parents M no United Kingdom (Great Britain) Pakistani >13y7m - - - MPXPS muscle weakness, proximal, early onset; currently ambulant; chorea; dystonia; no paroxysmal ataxia; short stature; normal skin; no microcephaly; ptosis; EMG normal; normal nerve conduction velocity; MRI brain signal change in globus pallidus; CPK 5000-8000 IU/L; severe learning difficulties MICU1 MICU1 1 1 Johan den Dunnen
00411256 198231 - - M ? Germany - - - - - MPXPS Muscular dystrophy, Migraine, Attention deficit hyperactivity disorder, Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Reduced muscle fiber alpha dystroglycan, Left anterior fascicular block MICU1 MICU1 1 1 Andreas Laner
00445138 - - - M no India - - - - - MPXPS Proximal muscle weakness (HP:0003701) Myalgia (HP:0003326) Scapular winging (HP:0003691) Abnormal lumbar spine morphology (HP:0100712) Waddling gait HP:0002515 MICU1 MICU1 2 1 Gautham Arunachal
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