Disease #07237 (MPD7 (Myopathy, Distal, 7, Adult-Onset, X-Linked), OMIM:301075)

Official abbreviation MPD7
Name Myopathy, Distal, 7, Adult-Onset, X-Linked
OMIM ID 301075
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 1 gene SMPX
Associated tissues skeletal muscle
Disease features X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins.
Remarks -
Date created 2026-03-06 04:55:41 +01:00 (CET)
Date last edited 2026-03-06 04:57:21 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00472892 F1 II.1 PubMed: Johari 2021 - M no Italy - - - - - MPD7 - - SMPX 1 1 Mridul Johari
00472893 F2 II.2 PubMed: Johari 2021 - M no Italy - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472894 F3 II.1 PubMed: Johari 2021 - M no Malta - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472895 F4 II.1 PubMed: Johari 2021 - M no Malta - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472896 F5 II.4 PubMed: Johari 2021 - M no Malta - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472897 F5 II.6 PubMed: Johari 2021 - M no Malta - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472898 F6 II.1 PubMed: Johari 2021 - M no France - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472899 F7 II.1 PubMed: Johari 2021 - M no France - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472900 F8 III.1 PubMed: Johari 2021 - M no Germany - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472901 F9 II.1 PubMed: Johari 2021 - M no Finland - - - - - MPD7 - SMPX SMPX 1 1 Mridul Johari
00472902 III.2 PubMed: Li 2024 - M no China - - - - - MPD7 progressive weakness/fatigue in bilateral distal lower limbs third decade; complained about proximal lower/upper limbs in recent years, able to walk; development milestones normal; contracture Achilles tendon in early life; deltoid muscle, tibial muscle, gluteus maximus strength were 4/5; decreased tendon reflex; CK 600-1163 U/L; electrophysiological study myogenic changes. Pure tone audiometry indicated mild sensorineural deafness ; ECG/cardiac ultrasonography normal; MRI showed muscle atrophy, fatty infiltration chest, shoulder, upper arm, and forearm; MRI thigh showed slightly fatty infiltration gluteus maximus and atrophy and fatty infiltration in the anterior and posterior compartment muscles in the calf muscles - SMPX 1 1 Mridul Johari
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