Prevalence and Incidence of Muscular Dystrophy in India

Muscular dystrophies (MDs) are a group of inherited muscle-wasting disorders. In India, precise epidemiological data are limited due to the lack of a comprehensive disease registry​ [indiatoday.in].

However, available estimates from government reports and academic studies provide insight into how common these conditions are.

Below is a summary of the most recent and reliable statistics on MD in India, including overall burden, specific subtypes, regional observations, trends, and demographics (age and gender).

Overall Burden and Data Sources

• Lack of National Registry: India classifies a disease as rare if it affects fewer than 1 in 2,500 individuals. There are over 7,000 rare diseases identified, including many forms of muscular dystrophy. Unfortunately, “the lack of a comprehensive registry makes it difficult to determine the exact burden of these conditions”  [indiatoday.in]. This means national prevalence data for MD must often be extrapolated from smaller studies or global figures.
• Estimated Prevalence (All MDs): A global systematic review (1960–2013) found the combined prevalence of all muscular dystrophies ranged roughly 20 to 25 per 100,000 people​ [pubmed.ncbi.nlm.nih.gov]. If India’s rates are similar, this suggests on the order of 250,000–350,000 individuals in India may be living with some form of muscular dystrophy (given India’s ~1.4 billion population). In practice, experts note MD prevalence can vary by country, and there may be under-diagnosis in India. For example, myotonic dystrophy and facioscapulohumeral MD were among the most common types globally (ranges ~0.5–18 and ~3–5 per 100,000 respectively)​ [pubmed.ncbi.nlm.nih.gov], alongside Duchenne MD (~1.7–4.2 per 100,000)​ [pubmed.ncbi.nlm.nih.gov]. These figures provide a rough benchmark for India in the absence of nationwide studies.
• Estimated Number of Cases: Some recent Indian sources estimate high numbers of affected individuals. Notably, Duchenne muscular dystrophy (the single most common type) has been said to affect “about 0.8 million male children in India”​ [mtprehabjournal.com]. This figure, cited in multiple Indian publications, underscores the significant burden of DMD. However, it may be an extrapolation; it is higher than what global prevalence rates alone would predict, possibly reflecting a broader age range or improved survival. It highlights that hundreds of thousands of Indians could be impacted by MD when all ages and types are considered.
• Data Sources: The figures below are drawn from peer-reviewed studies, government health information, and disease registries where available. The Indian Council of Medical Research (ICMR) and the Ministry of Health and Family Welfare (MoHFW) have begun focusing on rare diseases like muscular dystrophy, acknowledging the need for better data. For instance, the National Policy on Rare Diseases (2021–22) prioritizes conditions such as Duchenne MD​[theprint.in]. Tertiary care hospitals and research centers in India have also published cohort studies shedding light on the frequency of different MD subtypes​ [ojrd.biomedcentral.com]. These sources, along with international epidemiological research, form the basis of current estimates.

Prevalence of Duchenne and Becker Muscular Dystrophy (DMD/BMD) in India

Duchenne muscular dystrophy (DMD) is the most common and severe form of MD in children. Becker muscular dystrophy (BMD) is a milder allelic variant of DMD. Key statistics for India:

• Incidence: DMD has an incidence of roughly 1 in 3,500 live male births​ [theprint.in]. This aligns with global incidence rates. BMD is less frequent – about 1 in 18,000 male births​ [pmc.ncbi.nlm.nih.gov] (approximately one-fifth as common as DMD). These figures are widely accepted and have been noted by ICMR and Indian studies. Given India’s high birth rate, several thousand new DMD cases are likely born each year.
• Prevalence: Because of improved survival, the prevalence of DMD in the population is rising. Globally, DMD’s prevalence is estimated at 2.8 per 100,000 of the general population (or ~7 per 100,000 males)​ [ojrd.biomedcentral.com]. India’s prevalence is thought to be in a similar range. One oft-cited estimate suggests ~800,000 boys in India may be living with DMD​ [mtprehabjournal.com], though this number may include a broad age range and is not from a formal registry. Even if the true figure is lower, DMD still constitutes a large proportion of MD cases in India – some sources suggest DMD accounts for >80% of all childhood myopathies/muscular dystrophies​ [mtprehabjournal.com].
• Age of Onset: DMD symptoms typically manifest by 2–5 years of age (average ~3.5 years). In an Indian cohort, the mean age of symptom onset was about 3.2 years, with diagnosis often around age 7​ [pmc.ncbi.nlm.nih.gov]. Becker MD has a later onset, usually in adolescence or early adulthood, since it is a milder, slower-progressing condition.
• Gender Distribution: Both DMD and BMD are X-linked recessive disorders, so they predominantly affect boys. Virtually all patients are male, with females generally being asymptomatic carriers. (Rarely, female carriers might have mild symptoms due to skewed X-inactivation, but this is exceptional – effectively >99% of DMD/BMD patients are male).
• Trends: There is a positive trend in outcomes for DMD in recent years. Advances in management – particularly early genetic diagnosis, corticosteroid therapy, and improved cardiac/respiratory care – have significantly improved life expectancy​ [journals.lww.com]. Indian neurologists report that affected boys now enjoy better quality of life and prolonged ambulation (staying mobile longer) compared to a decade ago​ [journals.lww.com]. Many DMD patients in India are now living into their late teens or twenties (some even 30s), whereas in earlier decades survival beyond the mid-20s was rare. This improved survival contributes to a higher prevalence (more individuals alive with DMD at any time). Becker MD patients often live into middle or old age, which means BMD prevalence, while lower in incidence, includes many adult patients.
• Geographical Notes: Small genetic studies across different Indian regions (e.g. Rajasthan, Uttar Pradesh, etc.) suggest no major regional disparity in DMD occurrence – the disease is reported nationwide. The pattern of dystrophin gene mutations in North vs. South India appears remarkably similar, indicating a unified disease distribution​ [pmc.ncbi.nlm.nih.gov]. Thus, DMD cases are found throughout India’s states in proportion to population, rather than being concentrated in any one area.

Prevalence of Limb-Girdle Muscular Dystrophies (LGMD) in India

Limb-Girdle Muscular Dystrophy refers to a group of dozens of subtypes that primarily cause weakness of the shoulder and hip girdle muscles. These forms are collectively among the more common MDs in India after DMD/BMD​ [journals.lww.com], though each individual LGMD subtype is rare. Key points:

• Incidence/Prevalence: Precise figures for LGMD in India are not well documented. Because LGMD includes many genetic subtypes (both autosomal recessive and dominant), the frequency varies. An Indian neurology review noted that information on LGMD prevalence is scattered in case series, and “further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.”​ [journals.lww.com] [journals.lww.com]. In other words, we lack nationwide data. Globally, no single LGMD subtype approaches the prevalence of DMD or FSHD. For perspective, a Canadian review found the combined prevalence of all MDs (including LGMD) was up to 25 per 100,000​ [pubmed.ncbi.nlm.nih.gov], with LGMD comprising part of that total. It’s reasonable to assume all LGMD subtypes together account for a few per 100,000 in India, but each subtype individually might only affect a few per million people or fewer (making them individually very rare).
• Common Subtypes in India: Clinical experience suggests certain LGMD forms are frequently seen in India​ [journals.lww.com]. Notably, dysferlinopathy (LGMD type 2B, now called LGMDR2) and calpainopathy (LGMD2A, now LGMDR1) are reported often, as are the sarcoglycanopathies (LGMD2C-2F)​ [journals.lww.com]. Another form called GNE myopathy (also known as HIBM) is an adult-onset distal myopathy that overlaps with LGMD and is observed in India​ [journals.lww.com]. Some of these have founder mutations in certain Indian communities – for example, specific gene mutations have been identified repeatedly in particular regional or ethnic groups, indicating local founder effects​ [journals.lww.com]. This means that in some subpopulations (often those with higher rates of intra-community marriage), a recessive LGMD can be relatively more common.
• Age and Gender: LGMDs can present anywhere from childhood to adulthood, depending on subtype and severity. Autosomal recessive LGMDs often start in the teenage years or early adulthood, though severe forms can begin in childhood. Autosomal dominant forms may present later. Both males and females are affected (no sex predilection) since these are not X-linked (with a few extremely rare exceptions). For example, dysferlinopathy typically presents in young adulthood and affects both genders equally. Many patients in India with LGMD first notice difficulty walking or climbing stairs in their teens or 20s, leading to a diagnosis.
• Geographical Notes: Some regions might have higher rates of certain LGMDs due to genetic isolates. For instance, a few communities in Maharashtra and Gujarat have been noted for higher prevalence of specific mutations (founder mutations) in calpainopathy or dysferlinopathy​ [journals.lww.com]. Overall, LGMD cases are identified across India (reports come from north, south, west, etc.), but without a registry, we mainly know of clusters from research-active centers. There is currently an effort (e.g., at AIIMS New Delhi and other institutes) to genetically characterize LGMD patients nationwide, which should shed more light on regional distribution.

Prevalence of Facioscapulohumeral Muscular Dystrophy (FSHD) in India

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder and is globally the third most common muscular dystrophy (after Duchenne/BMD and myotonic dystrophy). It causes progressive weakness of facial, shoulder blade, and upper arm muscles, often later involving legs.

• Prevalence: International studies estimate FSHD affects roughly 4 per 100,000 individuals​ [pubmed.ncbi.nlm.nih.gov]. In Western populations, FSHD is a significant portion of MD cases. In India, FSHD is present but appears to constitute a smaller fraction of muscular dystrophy cases (about 2–3%)​ [journals.lww.com]. An older study from SGPGI Lucknow noted “FSHD accounts for only 2 to 3% of muscular dystrophy cases in India.”​ [journals.lww.com]. This low percentage is partly because DMD is so common in the pediatric group, and also possibly due to under-recognition of FSHD historically. Nonetheless, FSHD is likely underdiagnosed; with greater availability of genetic testing (for the characteristic 4q35 deletion), more Indian FSHD cases have been confirmed in recent years.
• Incidence: Precise incidence at birth is not well-studied for FSHD in India. Given its autosomal dominant inheritance, it can appear in families in any generation. If we extrapolate from prevalence, one might expect a few new FSHD cases per million population per year. A recent Indian cohort (the first genetically confirmed FSHD cohort study) has been reported, indicating growing recognition of the disorder​ [nature.com]. This study and others will help refine incidence estimates in the future.
• Age of Onset: FSHD often manifests in the late teens or early adulthood. The mean age of onset in an Indian case series was ~17 years​ [journals.lww.com]. However, it can be quite variable – some have mild symptoms only in mid-adulthood, while others notice facial weakness in childhood. It tends to progress slowly, with most patients remaining ambulatory until later in life.
• Gender Distribution: Because it is autosomal dominant, males and females are affected in equal proportion. In Indian FSHD families studied, both male and female patients are documented​ [journals.lww.com]. Men might be diagnosed slightly more often simply due to inheriting the mutation more frequently in some family trees, but there is no inherent sex limitation.
• Regional Notes: There is no clear regional concentration of FSHD in India – it likely exists across the country but was under-recognized. With increased genetic testing at major centers (Mumbai, Delhi, etc.), patients from various states (Punjab, Uttar Pradesh, Tamil Nadu, etc.) have been identified. The first Indian FSHD registry/cohort (published 2023) included patients from multiple regions, suggesting a pan-Indian presence. The genetic subtype (FSHD1 vs FSHD2) and specific mutation details in Indian patients show some differences from Western cohorts​ [nature.com], but epidemiologically the disease frequency seems comparable to global levels, just historically less reported.

Prevalence of Myotonic Dystrophy (DM1) in India

Myotonic dystrophy type 1 (DM1) – also known as Steinert disease – is the most common adult-onset muscular dystrophy worldwide. (There is also a type 2, which is rarer and even less common in India.) DM1 is characterized not only by muscle weakness and myotonia (difficulty relaxing muscles) but also multisystem features (cataracts, endocrine issues, etc.).

• Prevalence: Myotonic dystrophy has a notably wide range of prevalence globally, from about 0.5 up to 18 per 100,000​ [pubmed.ncbi.nlm.nih.gov]. This wide range is due to certain populations (e.g., some in Europe and Quebec) having higher frequencies of the mutation. There is no published national prevalence for DM1 in India. It is generally considered one of the more common MDs, likely only slightly less common than DMD or FSHD. If we assume a mid-range prevalence (say ~5–10 per 100,000), India could have on the order of tens of thousands of DM1 patients. In one tertiary center genetic study in India, myotonic dystrophy cases formed a significant subset of neuromuscular patients (e.g., at AIIMS New Delhi, DM1 was among the top four diagnoses in a cohort of 1000 patients)​ [nmd-journal.com]. This suggests a substantial presence, though many cases may remain undiagnosed in the community.
• Incidence: As an autosomal dominant disorder often arising from an expansion mutation, incidence is tricky to measure. Many cases are inherited, but new mutations can occur. There is no specific Indian incidence figure. Given its prevalence, it is not extremely rare – there are likely multiple new cases identified each year at major neuromuscular clinics. However, unlike DMD (which can be estimated per births), DM1 incidence would be described per population (e.g., a few per million per year) and can vary by region/family.
• Age of Onset: Adult onset is typical. Most DM1 patients in India present in their 20s or 30s with symptoms like distal muscle weakness (hand grip weakness, foot drop) and myotonia. There is also a congenital form of DM1 (babies born with severe weakness) usually when the mother has DM1. Congenital cases are rarer but do occur in India; these infants have hypotonia and respiratory issues from birth. Thus, DM1 can technically affect all age groups, but the bulk of cases are diagnosed in young to mid-adulthood.
• Gender Distribution: Both genders are equally affected. DM1 is autosomal dominant, so men and women inherit the mutation with equal likelihood. Some studies note that congenital cases more often come from affected mothers due to the genetic phenomenon of anticipation (the CTG repeat tends to expand when passed from mother to child). But overall, among adult patients in clinics, one sees both males and females in roughly equal numbers.
• Geographical Notes: No specific region in India has a known higher prevalence of DM1; it appears in all parts of the country. Family clusters occur (an affected parent may pass it to children, etc.). There haven’t been reports of any particular ethnic group in India with a markedly elevated DM1 frequency (unlike some founder populations elsewhere). Diagnosis of DM1 requires awareness and genetic testing (an unstable trinucleotide repeat in the DMPK gene), which is available at specialized centers. As awareness grows, more cases are being confirmed across India.

Prevalence of Congenital and Other Rare Muscular Dystrophies in India

Aside from the major categories above, India also sees other rarer forms of muscular dystrophy, though data on these are very sparse:

• Congenital Muscular Dystrophies (CMD): These are a group of dystrophies present from birth or infancy (often due to genes affecting muscle membrane or enzymes). They are extremely rare. One estimate for merosin-deficient congenital muscular dystrophy (a form of CMD) in India was a prevalence of only ~0.89 per 100,000​ [researchgate.net]. In practice, only a handful of CMD cases (such as Fukuyama CMD, Ullrich CMD, etc.) are reported in the literature from India, mostly as single case reports or small series. Many affected infants may not even get a precise genetic diagnosis. CMD affects both genders and typically is apparent in the first year of life, often with severe outcomes.
• Emery-Dreifuss Muscular Dystrophy (EDMD): EDMD can be X-linked (Emerin gene) or autosomal (Lamin A/C gene). It is characterized by early contractures and cardiac conduction block. EDMD is very rare in India; only scattered cases are reported. X-linked EDMD incidence is estimated <1 per 100,000 globally, so India likely has a very low number of families with this condition (exact figures not recorded). Both boys (X-linked form) and boys/girls (autosomal form) can be affected, usually with teenage onset of symptoms.
• Oculopharyngeal Muscular Dystrophy (OPMD): OPMD usually presents in late adulthood (50s) with eyelid drooping and swallowing difficulty. It has a higher prevalence in certain founder populations (like French-Canadians); in India it is exceedingly rare. A few cases have been genetically confirmed in Indian patients, but no prevalence data exists (likely far <1 per 100,000).
• Distal Muscular Dystrophies: These affect distal muscles (hands/feet first) and include conditions like GNE myopathy (also known as HIBM or quadriceps-sparing myopathy). GNE myopathy actually has a notable presence in India – it’s been reported among various communities and is autosomal recessive. Estimates suggest GNE myopathy affects ~1 person per million worldwide​ [mdaquest.org], and India has had several hundred diagnosed cases (especially in certain regions, e.g., a known cluster in Tamil Nadu). Other distal dystrophies (like Miyoshi myopathy – which is actually dysferlinopathy, already counted under LGMD2B – and others) are limited to small case series in India.
• Other: There are also rare myopathies such as limb-girdle muscular dystrophy type 2I (FKRP-related), Faciothoracoscapulal dystrophy, etc., reported only in one or two families in India. These are outliers and collectively account for a tiny minority of cases.

(In summary, beyond the main subtypes, other forms of MD in India are few. The focus of public health and research has rightly been on DMD/BMD, LGMD, FSHD, and DM1, which make up the vast majority of identified cases.)

Regional Variations and Recent Trends in Muscular Dystrophy

• Regional Variations: Overall, muscular dystrophy cases are distributed across India in proportion to the population – there is no evidence of any one state having a dramatically higher or lower incidence of the common MD types. Duchenne/Becker cases are found countrywide and show similar genetic mutation patterns across ethnic groups​ [pmc.ncbi.nlm.nih.gov]. However, localized variations exist for some rarer subtypes due to genetic founder effects. For example, certain villages or communities with higher rates of intermarriage have been noted to have multiple cases of a particular autosomal recessive MD (such as a specific LGMD). Researchers have identified founder mutations for some diseases in selected populations in India​ [journals.lww.com]– meaning in those groups the disease frequency is a bit higher than elsewhere. By and large, these are exceptions. No broad regional study has yet mapped MD prevalence by state. As diagnostics improve, it’s possible pockets of higher prevalence will be discovered in the future (for instance, if a certain mutation is common in a region). Currently, clinicians across India (from AIIMS Delhi to smaller clinics) all report seeing MD cases, reinforcing that these conditions are a nationwide concern.
• Urban vs Rural: One practical variation is that diagnosis is more common in urban centers (where neurologists and genetic testing are available). Rural patients often travel to cities for diagnosis or remain undiagnosed. This can create an impression that cities have more cases, but it’s likely an artifact of access to healthcare. Patient advocacy groups (e.g., the Muscular Dystrophy Association India) have members from many states, indicating affected families are dispersed throughout the country.
• Trends Over Recent Years: There are a few notable trends:
  • Increased Diagnosis: With growing awareness and availability of genetic testing in India over the last decade, more muscular dystrophy cases are being confirmed than before. The number of publications on muscular dystrophies by Indian researchers has risen, though India’s contribution to global MD literature is still modest​ [journals.lww.com]. The creation of specialized neuromuscular clinics and diagnostic centers (for example, at AIIMS New Delhi, NCBS Bangalore, and various state medical colleges) means that conditions like LGMD and FSHD, previously underdiagnosed, are now being identified more frequently. This likely leads to a moderate apparent increase in prevalence simply because we’re finding existing cases that would have been missed historically.
  • Improved Survival: As mentioned for DMD, care improvements have extended lifespans. This is a trend seen globally and in India. Improved survival of DMD and some LGMD patients means more individuals living with MD at any given time, boosting prevalence. For instance, respiratory support (e.g., non-invasive ventilation) and cardiac interventions (pacemakers for conduction blocks in EDMD, medication for cardiomyopathy in DMD/BMD) are increasingly accessible, especially in tertiary centers. This trend is likely to continue, which will gradually increase the adult MD population in India.
  • Policy and Registry Efforts: The Indian government has started to address rare diseases. A National Rare Disease Registry was proposed and ICMR launched an initiative, but as of a recent report it was “still not functional” a few years post-launch​ [rare-x.org]. Nonetheless, there are localized registries: the Rare Disease Registry of India (RDRI) at Jaipur, and databases at some institutes (e.g., SGPGI Lucknow for FSHD, AIIMS for genetic muscle diseases)​ [rare-x.org]. These efforts, along with the 2022 Rare Disease Policy, indicate a trend toward better data collection in the future. If successful, we may soon have more accurate incidence/prevalence figures stratified by region.
  • Therapeutic Research: India is also seeing increased clinical trial activity and research into treatments (e.g., gene therapy trials for DMD, exon-skipping therapies, etc., and locally developed drugs)​ [theprint.in]. While not directly an epidemiologic trend, this reflects the growing recognition of muscular dystrophy as a public health issue. More diagnosed patients are enrolling in registries to potentially receive emerging therapies, which again helps uncover more cases.
• Demographic Trends: The demographic profile of muscular dystrophy in India mirrors that seen worldwide:
  • Childhood-onset cases (like Duchenne, severe LGMDs, congenital MD) make up a large portion of diagnoses in pediatric neurology clinics. Many such patients did not historically survive into adulthood, but now an increasing number do.
  • Adult-onset cases (like Myotonic dystrophy, FSHD, mild LGMDs) are being diagnosed more often as adults seek evaluations for progressive weakness.
  • There is also a gradual increase in female patients being identified, not because the diseases are changing, but because conditions previously thought of as “male diseases” (like DMD carriers with symptoms, or autosomal dominants) are being better recognized. Still, due to X-linked disorders, the majority of symptomatic MD patients are male.
  • Age distribution: We now have a wider age range of MD patients in care – from infants (with CMD) to children (DMD), teenagers (LGMD, FSHD onset), adults (FSHD, DM1, BMD), and even some elderly (mild DM1 or Bethlem myopathy cases). This is a shift from a decade ago when the focus was mostly on pediatric cases like DMD. It underscores the need for lifelong management resources across the country.

The table below summarizes key epidemiological figures for major muscular dystrophy subtypes in India, based on the latest available data:

Sources: The data above are drawn from recent literature and reports: incidence of DMD/BMD​ [theprint.in] [pmc.ncbi.nlm.nih.gov], global prevalence ranges for DMD, FSHD, DM1​ [pubmed.ncbi.nlm.nih.gov], Indian context estimates​ [mtprehabjournal.com] [journals.lww.com], and expert reviews on LGMD and others​ [journals.lww.com] [researchgate.net].

Conclusion

In summary, muscular dystrophies collectively impose a significant health burden in India, though the exact prevalence and incidence are not fully documented due to limited epidemiological surveillance. Duchenne muscular dystrophy stands out as the most prevalent subtype in Indian children, with an incidence around 1 in 3,500 male births and thousands of boys affected nationwide​ [theprint.in]. Other forms like Becker MD, limb-girdle dystrophies, facioscapulohumeral MD, and myotonic dystrophy contribute smaller yet important shares of cases. There may be hundreds of thousands of Indians living with some form of muscular dystrophy when all types are counted, emphasizing the need for better resources and tracking.

Notably, regional variation in India is subtle – MDs are distributed across the country, with some clustering of rare subtypes in certain genetic isolates. Trends indicate improvements in diagnosis and survival, meaning more patients are identified and living longer with these diseases today than in the past​ [journals.lww.com]. Indian health authorities and researchers are increasingly focusing on muscular dystrophy (e.g., through rare disease policies and national registry initiatives), which should further clarify the epidemiological picture in coming years.

Overall, current data (from government health ministry estimates, hospital-based studies, and international research) suggest that while muscular dystrophies are individually rare, they are collectively an important health concern in India. Ongoing efforts to establish national registries and conduct multicenter studies will hopefully provide more precise prevalence and incidence figures, enabling better planning of healthcare services for muscular dystrophy patients across India.