ORPHA:258
Laminin subunit alpha 2-related congenital muscular dystrophy
Synonyms: CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency · Congenital muscular dystrophy type 1A · MDC1A · Merosin-negative congenital muscular dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital muscular dystrophy characterized by severe hypotonia, muscle weakness and muscle wasting presenting at birth or during infancy, poor spontaneous movements and contractures of the large joints. Patients have poor motor development leading to feeding and respiratory issues.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laminin subunit alpha 2-related congenital muscular dystrophy | CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency · Congenital muscular dystrophy type 1A · MDC1A · Merosin-negative congenital muscular dystrophy |
| fr | Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine | CMD1A · DMC1A · Dystrophie musculaire congénitale avec déficit primaire en mérosine · Dystrophie musculaire congénitale par déficit en laminine alpha 2 · Dystrophie musculaire congénitale type 1A · MDC1A |
| de | Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel | LAMA2-assoziierte kongenitale Muskeldystrophie · MDC1A · Muskeldystrophie, kongenitale, Merosin-negativ · Muskeldystrophie, kongenitale, Typ 1A · CMD1A · LAMA2-CMD |
| es | Distrofia muscular congénita asociada a la subunidad alfa 2 de la laminina | CMD1A · Distrofia muscular congénita merosina negativa · Distrofia muscular congénita por deficiencia de laminina alfa 2 · Distrofia muscular congénita tipo 1A · MDC1A |
| it | Distrofia muscolare congenita, tipo 1A | CMD1A · Distrofia muscolare congenita da deficit di laminina alfa2 · Distrofia muscolare congenita merosina-negativa · MDC1A |
| nl | Congenitale spierdystrofie type 1A | CMD1A · Congenitale spierdystrofie als gevolg van laminine alfa-2-deficiëntie · MDC1A · Merosinenegatieve congenitale spierdystrofie |
| pt | Distrofia muscular congénita associada à subunidade alfa 2 da laminina | Distrofia muscular congénita merosina negativa |
| pl | Wrodzona dystrofia mięśniowa typu 1 | CMD1A · MDC1A · Merozyno-ujemna wrodzona dystrofia mięśniowa · Wrodzona dystrofia mięśniowa spowodowana niedoborem laminy alfa2 |
| cs | Vrozená svalová dystrofie, typ 1A | CMD1A · MDC1A · Merozin-negativní vrozená svalová dystrofie · Vrozená svalová dystrofie způsobená deficitem laminin alfa2 |
| uk | Вроджена мязова дистрофія, повязана з ламініновою субодиницею альфа-2 | CMD1A · Вроджена мязова дистрофія внаслідок дефіциту ламініну альфа2 · Вроджена мязова дистрофія типу 1А · MDC1A · Мерозин-негативна вроджена мязова дистрофія |
| zh | 层粘连蛋白α2亚基相关性先天性肌营养不良症 | 层粘连蛋白α2亚基缺乏所致先天性肌营养不良 |
| tr | Laminin alt birim alfa 2--ilişkili doğumsal kas distrofisi | CMD1A · MDC1A · Doğumsal kas distrofisi tip 1A · Merozin-negatif doğumsal kas distrofisi · Laminin alfa2 eksikliğine bağlı doğumsal kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607855 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 11925 | E | validated | |
| MeSH | C537384 | E | validated | |
| UMLS | C1263858 | E | validated | |
| GARD | 3843 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:207094Laminin subunit alpha 2-related muscular dystrophy
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1877Muscular dystrophy-white matter spongiosis syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6482 | ENSG00000196569 | 156225 | 6q22.33 | laminin subunit alpha 2 | 24223650[PMID]_22675738[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Worldwide | Value and class | Validated | 37005889[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.6 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Eastern Mediterranean Asia | Value and class | Validated | 37005889[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 37005889[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
54 annotations · validated 2016-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0030091 | Absent muscle fiber merosin | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0030234 | Highly elevated creatine kinase | |
| HP:0002375 | Hypokinesia | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0009025 | Increased connective tissue | |
| HP:0001270 | Motor delay | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003560 | Muscular dystrophy | |
| HP:0100614 | Myositis | |
| HP:0002878 | Respiratory failure | |
| HP:0001612 | Weak cry | |
| Frequent (79-30%) | ||
| HP:0012747 | Abnormal brainstem MRI signal intensity | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0002835 | Aspiration | |
| HP:0002446 | Astrocytosis | |
| HP:0002181 | Cerebral edema | |
| HP:0003457 | EMG abnormality | |
| HP:0010628 | Facial palsy | |
| HP:0001371 | Flexion contracture | |
| HP:0005216 | Impaired mastication | |
| HP:0001249 | Intellectual disability | |
| HP:0000158 | Macroglossia | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0011675 | Arrhythmia | |
| HP:0100750 | Atelectasis | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100543 | Cognitive impairment | |
| HP:0004325 | Decreased body weight | |
| HP:0002015 | Dysphagia | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0003307 | Hyperlordosis | |
| HP:0002791 | Hypoventilation | |
| HP:0004878 | Intercostal muscle weakness | |
| HP:0001339 | Lissencephaly | |
| HP:0002058 | Myopathic facies | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000194 | Open mouth | |
| HP:0001302 | Pachygyria | |
| HP:0006879 | Pontocerebellar atrophy | |
| HP:0010808 | Protruding tongue | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002650 | Scoliosis | |
| HP:0007141 | Sensorimotor neuropathy | |
| Very rare (<4-1%) | ||
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24778697[PMID]_9185183[PMID]_17628813[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/258
- This record as JSON: /data/d/258.json