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Distal myopathy, Tateyama type(MPDT)

MedGen UID:: 482073
•Concept ID:: C3280443
•: Disease or Syndrome

Synonyms:	CAV3-Related Distal Myopathy; MPDT
SNOMED CT:	CAV3-related distal myopathy (711265009); Caveolin 3 related distal myopathy (711265009); Distal myopathy, Tateyama type (711265009)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	CAV3 (3p25.3)

Monarch Initiative:	MONDO:0013686
OMIM®:	614321
Orphanet:	ORPHA488650

Definition

CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition. [from MedlinePlus Genetics]

Clinical features

From HPO

Hand muscle weakness

MedGen UID:: 66798
•Concept ID:: C0239831
•: Finding

Reduced strength of the musculature of the hand.

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Pes cavus

MedGen UID:: 675590
•Concept ID:: C0728829
•: Congenital Abnormality

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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Palpitations

MedGen UID:: 14579
•Concept ID:: C0030252
•: Finding

A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.

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Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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Centrally nucleated skeletal muscle fibers

MedGen UID:: 330782
•Concept ID:: C1842170
•: Finding

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).

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Calf muscle hypertrophy

MedGen UID:: 335868
•Concept ID:: C1843057
•: Finding

Muscle hypertrophy affecting the calf muscles.

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Neck flexor weakness

MedGen UID:: 334801
•Concept ID:: C1843637
•: Finding

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).

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Increased variability in muscle fiber diameter

MedGen UID:: 336019
•Concept ID:: C1843700
•: Finding

An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.

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Type 1 muscle fiber predominance

MedGen UID:: 344274
•Concept ID:: C1854387
•: Finding

An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).

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Intrinsic hand muscle atrophy

MedGen UID:: 351202
•Concept ID:: C1864716
•: Finding

Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.

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Elevated circulating aspartate aminotransferase concentration

MedGen UID:: 57497
•Concept ID:: C0151904
•: Finding

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

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Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

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Increased circulating lactate dehydrogenase concentration

MedGen UID:: 1377250
•Concept ID:: C4477095
•: Finding

An elevated level of the enzyme lactate dehydrogenase in the blood circulation.

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Abnormality of limbs
- Hand muscle weakness
- Pes cavus
Abnormality of metabolism/homeostasis
Abnormality of the cardiovascular system
- Palpitations
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDistal myopathy, Tateyama type

Autosomal dominant distal myopathy
- Distal myopathy, Tateyama type

Recent clinical studies

Etiology

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.

Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M
Orphanet J Rare Dis 2023 Aug 11;18(1):241. doi: 10.1186/s13023-023-02850-y. PMID: 37568154 Free PMC Article

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M
J Neuromuscul Dis 2023;10(4):555-566. doi: 10.3233/JND-230029. PMID: 37125562 Free PMC Article

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